Dear Editor,
Thomas Brown provided a helpful recent review of pure autonomic failure (PAF) in this journal1. However, there is one very important point which I would wish to add. The diagnosis of this rare condition should be made with extreme caution in the early years of presentation. The first case in the review had a diagnosis of PAF made just two years after symptoms began. In fact, other commoner causes of primary autonomic failure may declare themselves many years after the symptoms first begin, and I have seen a number of such cases during my time at the autonomic unit in Queen Square. A rough rule of thumb used to be that at least five years should pass before making a definitive diagnosis of PAF2. More recent evidence suggests that even longer may be required. A third of cases already with symptoms suggestive of PAF for an average of 5 years were found to have an alternative diagnosis with subsequent follow up for a further four years3. Alternative diagnoses included other synucleinopathies such as Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy.
For many years attempts have been made to find reliable ways to distinguish PAF from other causes of primary autonomic failure. PAF is seen classically as a post-ganglionic disorder whilst multiple system atrophy is seen as a pre-ganglionic form of primary autonomic failure. Utilising this pathophysiological difference, a variety of differentiating tests have been attempted....
Dear Editor,
Thomas Brown provided a helpful recent review of pure autonomic failure (PAF) in this journal1. However, there is one very important point which I would wish to add. The diagnosis of this rare condition should be made with extreme caution in the early years of presentation. The first case in the review had a diagnosis of PAF made just two years after symptoms began. In fact, other commoner causes of primary autonomic failure may declare themselves many years after the symptoms first begin, and I have seen a number of such cases during my time at the autonomic unit in Queen Square. A rough rule of thumb used to be that at least five years should pass before making a definitive diagnosis of PAF2. More recent evidence suggests that even longer may be required. A third of cases already with symptoms suggestive of PAF for an average of 5 years were found to have an alternative diagnosis with subsequent follow up for a further four years3. Alternative diagnoses included other synucleinopathies such as Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy.
For many years attempts have been made to find reliable ways to distinguish PAF from other causes of primary autonomic failure. PAF is seen classically as a post-ganglionic disorder whilst multiple system atrophy is seen as a pre-ganglionic form of primary autonomic failure. Utilising this pathophysiological difference, a variety of differentiating tests have been attempted. One of the more promising has been the use of functional imaging to demonstrate the cardiac sympathetic the denervation one would expect with the post-ganglionic involvement of sympathetic nerves in PAF in contrast to multiple system atrophy. However this does not distinguish PAF from Parkinson’s disease reliably. Whilst some differences in the haemodynamic responses to stimuli such as water drinking may exist between PAF and other conditions4, as yet there is not a single test which can with certainty isolate true cases of PAF from its potential mimics. These conditions can differ significantly in terms of management and prognosis. Therefore whilst a working diagnosis of PAF may be tentatively considered early in the clinical course, ongoing surveillance over many years would be an important practical suggestion in such cases.
REFERENCES
1 Brown TP. Pure autonomic failure. Pract Neurol. 2017 Oct;17(5):341-348
2 Freeman R. Pure Autonomic Failure: An immaculate misconception? Neurology 2004;63;953-954
3 Kaufmann H et al. Natural history of pure autonomic failure: A United States prospective cohort. Ann Neurol. 2017 Feb;81(2):287-297
4 Young TM, Mathias CJ. The effects of water ingestion on orthostatic hypotension in two groups of chronic autonomic failure: multiple system atrophy and pure autonomic failure. J Neurol Neurosurg Psychiatry. 2004 Dec;75(12):1737-41.
We came across the pages of the article of Nashef and Leach recently released to the scientific community through the Practice Neurology with a great enthusiasm.1 The authors have not only had courage, but have had special ability in touching on such an important matter in a scientific and subtle manner simultaneously. As we know, along the past twenty years there has been exponential growth in the number of articles published on SUDEP with a triple increase in this scientific production in the last ten years.2 Therefore a great scientific breakthrough in SUDEP has been established with regard to epidemiological aspects, specific risk factors, mechanisms involved and possible preventive measures (if they really exist) 3. And yet, it is very well defined that the main risk factor for SUDEP is the presence and number of generalized tonic-clonic seizures (GTCS)3 and the best way to avoid a tragic event is to control these GTCS. In parallel, there is also an imperative issue in relation to all these aspects: how, when, where, why and what patients should we address on SUDEP? Despite the great effort of epileptologists and elegant studies already published, the discussion on SUDEP with patients is still a matter of debate among experts.4 In order to enable this debate, we will have to somehow let the conservative side and consider the current numbers that demonstrate that 1 in every 1000 young adults and 1 in every 4500 children with epilepsy may suddenly die. 5 And more, accor...
We came across the pages of the article of Nashef and Leach recently released to the scientific community through the Practice Neurology with a great enthusiasm.1 The authors have not only had courage, but have had special ability in touching on such an important matter in a scientific and subtle manner simultaneously. As we know, along the past twenty years there has been exponential growth in the number of articles published on SUDEP with a triple increase in this scientific production in the last ten years.2 Therefore a great scientific breakthrough in SUDEP has been established with regard to epidemiological aspects, specific risk factors, mechanisms involved and possible preventive measures (if they really exist) 3. And yet, it is very well defined that the main risk factor for SUDEP is the presence and number of generalized tonic-clonic seizures (GTCS)3 and the best way to avoid a tragic event is to control these GTCS. In parallel, there is also an imperative issue in relation to all these aspects: how, when, where, why and what patients should we address on SUDEP? Despite the great effort of epileptologists and elegant studies already published, the discussion on SUDEP with patients is still a matter of debate among experts.4 In order to enable this debate, we will have to somehow let the conservative side and consider the current numbers that demonstrate that 1 in every 1000 young adults and 1 in every 4500 children with epilepsy may suddenly die. 5 And more, according to the strategies and guidelines established by professionals and centres enabled, the physician has a key role in the patient's education to ensure the accuracy of information about epilepsy and its possible fatalities and thereby minimising risk factors associated with SUDEP.4 Some fatal event will occur even with all these cares. Inevitably, parents and family will suffer from this early and sudden death. How and when should we proceed after SUDEP? How to tackle grieving parents and family? What's the best time and how should we talk to them? Should we really address the parents and relatives after the SUDEP? Is it right or duty of the physician (or the multidisciplinary team) addressing the bereaved? How to discuss the subject with our multidisciplinary team? How and whom do we professionals have to question about these matters? Should we discuss the subject systematically at our clinical meetings? These and other possibilities wisely described by the other colleagues1 cause us to reflect much further on that. Certainly, all these considerations together open new research possibilities which will contribute to reduce the future statistics of SUDEP. And to sum up, will we be prepared for this new stage? For many people, unfortunately, the most complicated is not to die but to live instead, and in this case just survive.
ACKNOWLEDGEMENTS
Our studies are supported by the following grants: FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo); CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) and FAPESP/CNPq/MCT (Instituto Nacional de Neurociência Translacional).
DISCLOSURE
The authors report no conflicts of interest.
REFERENCES
1 Nashef L, Leach JP. SUDEP, the aftermath: supporting the bereaved. Pract Neurol. 2017 (in press) doi: 10.1136/practneurol-2017-001729
2 Scorza FA, do Carmo AC, Scorza CA, et al. SUDEP: A steep increase in publication since its definition. Epilepsy Behav 2017;72:195-197.
3 Devinsky O, Hesdorffer DC, Thurman DJ, et al. Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention. Lancet Neurol 2016;15:1075-88.
4 Shankar R, Donner EJ, McLean B, et al. Sudden unexpected death in epilepsy (SUDEP): what every neurologist should know. Epileptic Disord 2017;19:1-9.
5 Harden C, Tomson T, Gloss D, et al. Practice guideline summary: Sudden unexpected death in epilepsy incidence rates and risk factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology 2017;88:1674-1680.
Stone and Carson(1) say:
‘Non-organic refers to things unrelated to living matter,… This is a word that cannot be used to describe conditions suffered by living human beings.’ They refer ‘to the OED sense: “something characterised by structural or other pathological change in an organ or organs”. They acknowledge it was useful ‘in the 19th century when neurologists first saw the pathology of multiple sclerosis or motor neurone disease. But what about genetic generalised epilepsy or migraine—pathological, but not necessarily structural, or at least no more so than, for example, unipolar depression where there is quite substantial evidence for structural changes. ’(2)
They are right to point out the difficulties in separating ‘functional and non-organic’ disorders from those with structural or ultrastructural abnormalities but they should not be ‘blackballed from the club of legitimate conditions because of the difficulty in establishing their veracity.’
Most of us understand that epilepsy, migraine and spasmodic torticollis, for example, have underlying structural or other subtle abnormalities; the fact that modern techniques don't always disclose the organic basis does not mean they are psychogenic, do not exist, or are illegitimate.
Functional was originally the result of altered function (rather than structure) of an organ, system, etc.; but its meaning confusingly changed to a psychological cause as opposed to a physical one. The term...
Stone and Carson(1) say:
‘Non-organic refers to things unrelated to living matter,… This is a word that cannot be used to describe conditions suffered by living human beings.’ They refer ‘to the OED sense: “something characterised by structural or other pathological change in an organ or organs”. They acknowledge it was useful ‘in the 19th century when neurologists first saw the pathology of multiple sclerosis or motor neurone disease. But what about genetic generalised epilepsy or migraine—pathological, but not necessarily structural, or at least no more so than, for example, unipolar depression where there is quite substantial evidence for structural changes. ’(2)
They are right to point out the difficulties in separating ‘functional and non-organic’ disorders from those with structural or ultrastructural abnormalities but they should not be ‘blackballed from the club of legitimate conditions because of the difficulty in establishing their veracity.’
Most of us understand that epilepsy, migraine and spasmodic torticollis, for example, have underlying structural or other subtle abnormalities; the fact that modern techniques don't always disclose the organic basis does not mean they are psychogenic, do not exist, or are illegitimate.
Functional was originally the result of altered function (rather than structure) of an organ, system, etc.; but its meaning confusingly changed to a psychological cause as opposed to a physical one. The term functional, which approximates to non-organic, should be confined to conditions such as migraine or asthma in which there is evidence of a disordered function or biophysiology. Non-organic has the merits of indicating simply the dearth of evidence of a structural, genetic or biochemical basis capable of demonstration using available technology. It should not imply that the patient harbours a definable psychological illness, nor that symptoms are faked.
Stone and Carson say ‘the word “organic” and its evil twin “non-organic”… deserve their place in the hall of neuromythology.’ Like the term angina (Greek ankhone "a strangling") they are simply metaphors. Many physicians still find these terms useful and practical for purposes of communication, and because when correctly applied they may influence the extent of investigation and treatment.
2 Arnone D , McIntosh AM , Ebmeier KP , et al . Magnetic resonance imaging studies in unipolar depression: systematic review and meta-regression analyses. Eur Neuropsychopharmacol 2012;22:1–16.doi:10.1016/j.euroneuro.2011.05.003
We thank Dr Hughes for his thoughtful letter and his previous extensive comments as part of the reviewing process.
The main issue Dr Hughes has raised is the possibility of another local structural lesion. He asks that “Some cross checking with digital examination of the floor of the mouth, palpation of the tongue, or the results of attempts by a clinician to correct the position of the tongue may be all that is required to confirm or refute the working diagnosis.
We had already addressed this in our paper “The ENT and oral maxillofacial surgeons had noted a small post-traumatic neuroma/granuloma at the left retromolar space but with no other oral structural abnormality “. And expanded on this in response to the query in Dr Hughes’s first review, “No structural lesion to the tongue muscle or its attachments was observed on clinical examination by an experienced ENT surgeon or on independent examination by an oral maxillofacial surgeon”.
We feel our explanation as outlined in our paper remains the most plausible.
Dear Editors,
Carr AS, et al. Pract Neurol 2017;17:218–221. doi:10.1136/practneurol-2016-001491
In the interests of enhancing our understanding of bulbar function from the perspective of the jobbing clinical neurologist, I am writing to you regarding a publication in this month’s edition of Practical Neurology (Carling et al.). As it stands I do not think the case report does justice to the scholarship of the seven authors.
I enjoyed formally refereeing the paper on two separate occasions (enclosed), and offered a third comment (“I think the patient has a lingual nerve palsy and a tethered tongue on the left, both occurring as a complication of surgery”) by email, in the hope that it could appear in a little box as “reviewer’s comments”. I now think that I would have provided a better service to PN if I had sent this single sentence to you instead of the first review.
In the report, the authors champion the careful approach required in patients with very focal abnormalities involving the lower cranial nerves and the muscles they innervate. They describe in pictures and very useful tables—copies of which are already on my office wall—the detailed knowledge that is required to avoid misattribution in the crowded and inaccessible house of the structures involved in bulbar function.
The patient concerned had a third molar removed and postoperatively had a lingual nerve palsy. This complication is anticipated, and is included in the consent pro...
Dear Editors,
Carr AS, et al. Pract Neurol 2017;17:218–221. doi:10.1136/practneurol-2016-001491
In the interests of enhancing our understanding of bulbar function from the perspective of the jobbing clinical neurologist, I am writing to you regarding a publication in this month’s edition of Practical Neurology (Carling et al.). As it stands I do not think the case report does justice to the scholarship of the seven authors.
I enjoyed formally refereeing the paper on two separate occasions (enclosed), and offered a third comment (“I think the patient has a lingual nerve palsy and a tethered tongue on the left, both occurring as a complication of surgery”) by email, in the hope that it could appear in a little box as “reviewer’s comments”. I now think that I would have provided a better service to PN if I had sent this single sentence to you instead of the first review.
In the report, the authors champion the careful approach required in patients with very focal abnormalities involving the lower cranial nerves and the muscles they innervate. They describe in pictures and very useful tables—copies of which are already on my office wall—the detailed knowledge that is required to avoid misattribution in the crowded and inaccessible house of the structures involved in bulbar function.
The patient concerned had a third molar removed and postoperatively had a lingual nerve palsy. This complication is anticipated, and is included in the consent process. This part of the report is a valuable reminder for PN readers, but I suspect it rarely reaches neurologists as dentists and oral surgeons are so familiar with the clinical features, and the medicolegal implications.
The unusual postoperative complication in the patient described is the position of the tongue. The tongue is tilted to the left side regardless of the movements attempted, with predictable effects on relevant phoneme production and on swallowing. There has been no recovery after four years. The abnormality is striking, particularly as in complete twelfth nerve palsies—where many of the muscles of one side of the tongue can be shown to be involved clinically—electrically and radiologically the tongue is not fixed in the way described, and patients seem able to compensate relatively well with the passage of time.
The first edition of the paper attributed this to a loss of proprioception in half of the tongue, due to a loss of fibres conveying muscle stretch sense from the tongue. I questioned this in the first review, and in the second version the position of the tongue was attributed to dysfunction of styloglossus, an elevator of the tongue that fans out to insert along its lateral border. I questioned this in the second review suggesting that a more likely explanation was tethering of the tongue; the patient describes their tongue as feeling stuck, and subsequently it was suspected that there was granulomatous tissue at the site of the operation.
The authors’ point about the need for accurate diagnoses of impairments in this clinical territory is well made. This is clearly relevant in accurately identifying and naming the muscles and cranial nerve branches involved but also to distinguish pure neurological disease from temporally and anatomically adjacent structural disease. In the limbs this is more straightforward because the repertoire of signs is so broad. Observation at rest and during movement, and the testing of tone, strength, reflexes, coordination, sensation, and function is relatively straightforward, as is a basic musculoskeletal examination to look for scar tissue, contractures and joint deformities. Attempts to carry out similar tests for the jaw, larynx, pharynx and tongue are unhinged by their size and structure and the limited views, access and purchase. This congestion cramps the traditional style and sequence of neurological examination at the bedside and may leave the examiner inferring the presence of deficits on the grounds of limited evidence. In the limbs, suspected abnormalities of tone can be triangulated with strength and reflexes, and suspected weakness with inspection and passive range of movement. The signs accepted by one examiner can easily be verified or refuted by others and even quantified using validated rating scales. For the lower cranial nerves, such cross checking and shared scrutiny is more difficult. This may explain a tendency to over interpret the information that is retrieved or inferred; for the tenth nerve the gag reflex has been used in the past to inform risk assessments related to conscious level, swallowing and even mountain sickness.
With these considerations in mind, I am concerned that there may be another explanation for the findings that would further inform the approach to such cases and illustrate even more vividly the need for a special approach in cases of very localised bulbar dysfunction. Some cross checking with digital examination of the floor of the mouth, palpation of the tongue, or the results of attempts by a clinician to correct the position of the tongue may be all that is required to confirm or refute the working diagnosis.
I raise these concerns in the interests of maintaining the high standards, for authors and reviewers, of Practical Neurology.
Reviewer comments to editors (first draft)
Thanks very much for asking me to review this paper. It is a single-case report about loss of proprioception in the tongue with lingual nerve dysfunction, a common but usually transient complication of third molar removal (related to either the anaesthesia or surgery or both). There are stretch receptors in the tongue, but traditionally it has been thought that their afferent neurones travel with the hypoglossal rather than the lingual nerve.
At first I thought it was identifying something important about the tongue and in particular its proprioception, but with repeated reading I have become less certain about the interpretation of the clinical signs, and the conclusions drawn.
Immediately following third molar removal under local anaesthetic the patient described had persistent dysarthria in association with sensory loss in a lingual nerve distribution, with what are described as pseudoathetoid movements of the tongue.
I think it is a scholarly article and I hope the authors will tolerate my questions!
Was the surgery for the removal of the left third molar unusual in any way, and in particular were any incisions required in to the gum of the third molar, and if so were they made on the buccal (standard practice) or lingual side? This would inform thinking about the possibility of additional complications.
Were tests done to demonstrate loss of proprioception in the tongue? I think this is important given their use of the term pseudoathetoid in the title of the paper.
Options include holding the tongue gently with small padded forceps and with the patient’s eyes closed testing awareness of passive tongue movements. As with other tests of lower cranial nerve dysfunction the field of view in such a crowded area is not great and the repertoire of signs limited, but if the described tongue movements are a result of proprioceptive loss, I would expect some detectable impairment of awareness of tongue position. This is of particular relevance as in day-to-day function any sensory loss in and on the tongue was apparently uncompensated for by the completely normal right side sensation (lingual and buccal) and the normal left sided sensation of the buccal mucosa, teeth, hard palate and other closely tongue-apposing structures.
Is it reasonable to compare and contrast this patient’s bizarre tongue movements with other patients who have more extensive intraoral sensory loss e.g. lateral medullary syndrome, pontine plaques and cavernomas etc.? I think we see dysarthrias commonly, and tongue deviation secondary to motor problems, but not bizarre tongue movements that we attribute to sensory loss. With such a high density of receptors in the tongue and mouth, and the relatively small area of sensory loss on just one side of her tongue and gum, it seems improbable that she would not be able to overcome a unilateral sensory problems, and relearn normal speech and swallowing.
Is there another reason why she has ended up so disabled by a unilateral sensory problem? Could it be structural or motor?
The patient describes feeling as though the tongue is stuck, something that suggests a degree of preserved proprioception, but also could suggest a structural problem. I would be interested to know if the floor of the mouth and base of tongue was palpated, digitally, on the left side to detect any persistent post operative changes, particularly any involving tongue muscles, as some of the movements of the tongue could be explained by a motor problem. I note that there was no wasting or fasciculation of the tongue and that an EMG was normal but the extrinsic muscles of the tongue may still be dysfunctional, and I would like to ask about two.
I note that the tongue at rest had a tendency to point to the right (rather than be randomly positioned in the mouth as would be expected with significant proprioceptive loss), and in figure 1 the right side seems higher than on the left. I would be interested to know if this pattern of movement could be explained by an absence of styloglossus function on the left. This muscle pulls the tongue backwards and upwards. A loss of function may explain the resting position of the tongue and the tendency of it to point to the right, as the push-me-out, pull-me-back interaction of genioglossus and styloglossus would be lost on the left, and the push-me-out action of left genioglossus would be unopposed, resulting in a tendency of the tongue to point to the right.
The hyoglossus muscle pulls the tongue down and theoretically if it was damaged or changed by surgery it could be tethering the tongue on the left, effectively pulling it down and creating the consistently asymmetrical position in the mouth.
Is there any chance that surgery could have damaged these muscles or their nerve supply?
Regarding the possibility of a motor problem they give very little information about her speech. I would be interested to know whether she was able to reliably produce alveolar and velar plosives, and whether lingual fricatives were normal. There is also no information about the nature of her swallowing problem, particularly whether there was anything to suggest, clinically or on a videofluoroscopy, inadequate apposition of the base of the tongue with the posterior pharyngeal wall.
The sequence of activation of the muscles involved in swallowing is immutable, and can be initiated voluntarily, and is not in anyway dependent on lingual nerve function therefore it is difficult to attribute her swallowing problem to sensory loss of any kind in the anterior tongue. This is another reason I would be interested to know if a motor or structural problem could underlie her symptoms, unchanged after four years.
Overall I feel that not enough evidence has been gathered to justify attributing the tongue movements to a problem with proprioception, but I would be intrigued to review more information about the clinical findings.
There are some minor points of accuracy relating to the motor innervation of palatal elevation (X and V, not IX), the relevance of inferring that a present gag reflex in a conscious adult tells us anything about swallowing function (analogous to saying that someone can walk because they have knee and ankle reflexes), or that an absent palatal or pharyngeal reflex necessarily means that there is sensory loss (in lots of normal adults palatal and pharyngeal movement is not elicited by their stimulation). There is one typo (dysphasia instead of dysphagia) and in the abstract a mistake (facial nerve instead of lingual nerve).
I have enjoyed reviewing the paper and would be interested to see a second draft.
Reviewer comments to editors (second draft)
Thank you very much for asking me to review this paper. I saw an earlier version in which a loss of proprioception/muscle stretch sense in the tongue (as a feature of a lingual nerve palsy) was thought to be contributing to the clinical picture. In this revised version it is suggested that in addition to the lingual nerve palsy there is selective involvement of styloglossus, and that this explains the abnormality of tongue movement.
I have read and reread the paper and have once again enjoyed checking and cross checking the neuroanatomy. I really enjoyed the scholarship of the authors involved in describing each individual intrinsic and extrinsic muscle of the tongue and suggesting ways in which clinicians can examine their function and I think this version is an improvement on the first.
However I still have some reservations about the central message of the report –in particular the selective involvement of styloglossus - and I feel sure that the authors would want me to challenge their conclusions.
A lingual nerve injury is very well described as a complication of third molar removal and this was clearly the case in this patient. I will not comment further on the clinical features that are clearly a result of a lingual nerve palsy.
What is less clear is the mechanism underlying the position of the tongue at rest, and during phoneme production.
The most striking, and possibly most relevant, clinical sign in this case is the depressed position, at rest, of the posterolateral aspect of the tongue. This does not correct when the subject sees her tongue in the mirror, and appears to have remained fairly static despite therapy and the passage of time (four years).
This is attributed to the selective involvement of the styloglossus muscle which (Gray’s Anatomy) “ is the shortest and smallest of the three styloid muscles and passing downwards and forwards divides into two portions, one longitudinal which enters the side of the tongue near its dorsal surface, blending with the fibres of the Longitudinalis linguae inferior in front of the Hyoglossus, and the other, oblique portion, overlaps the Hyoglossus and decussates with its fibres”.
Changes in speech production are also attributed to a problem with styloglossus (which retracts and elevates the tongue) in particular difficulty with lingual fricatives, as are changes in swallowing.
Other features of note are that before the patient attended the peripheral nerve clinic ENT surgeons had commented on a post-traumatic neuroma/granuloma at the left retromolar space and I note the patient’s comment about “a sticking of her tongue” when speaking and the pain she reported a month later around the operative area.
Conclusion
I find it difficult to believe that dysfunction of styloglossus is responsible for the problems with tongue movement in this patient for a number of reasons:
1 By the time the muscle has reached the angle of the jaw it is starting to fan out and it seems unlikely that the whole muscle could be transected during dental surgery without the surgeon noticing
2 It is a small muscle
3 MR imaging does not reveal atrophy of the tongue or any selective atrophy of styloglossus (or any other tongue muscle) and yet the disability is severe (she lost her job in telesales) and her speech did not improve with therapy or the passage of time.
4 I have not seen persistent changes in the posture of the tongue, at rest, in complete unilateral hypoglossal nerve palsies when all muscles lose their opposite number, and all of the muscular push-me-pull-you is unopposed, and unapposed.
5 For the position of the tongue to be explained by the loss of styloglossus we would have to accept that at rest the muscle is in fact contracting and elevating the base of the tongue.
My lingering concern is that the left tongue base is tethered in to the floor of the mouth posterolaterally.
Therefore I would be very interested to know if palpation of the tongue and floor of the mouth is normal and in particular if the left dorsolateral tongue can be elevated by the examiners finger or fingers in the same way as it can on the right side.
If this is the case then the report would be very valuable as it would highlight the importance of excluding structural disease before attributing changes in bulbar function to purely neurological deficits.
I hope this is helpful and I look forward to further correspondence.
Tom
We thank Prof Barker for sharing his thoughts and experience[1] on
our report of psychogenic non-epileptic seizures in Huntington's
disease[2].
We agree that neuropsychiatric manifestations are extremely common in HD
and most cases of unusual behaviours or movements would not fall into the
category of functional disorders.
Moreover we certainly do not wish to give the impression that non-
epileptic...
We thank Prof Barker for sharing his thoughts and experience[1] on
our report of psychogenic non-epileptic seizures in Huntington's
disease[2].
We agree that neuropsychiatric manifestations are extremely common in HD
and most cases of unusual behaviours or movements would not fall into the
category of functional disorders.
Moreover we certainly do not wish to give the impression that non-
epileptic attacks are highly prevalent in HD: they certainly remain
confined to a small number of patients with HD overall.
However, Prof Barker's observations from his patient cohort and the
literature are not inconsistent with our suggestion that the diagnosis is
nonetheless under-recognised. In our similarly-sized service, we have
encountered two such patients with compelling clinical and
neurophysiological evidence for non-epileptic seizures in the past year
alone. It would certainly be interesting to see what proportion of HD
patients diagnosed with seizures in a large cohort had EEG evidence to
support the diagnosis.
We could not agree more with Prof Barker, that a high index of suspicion
and low threshold for thorough investigation is necessary in all such
cases.
References
[1] Barker RA, Mason SL. Re: Psychogenic non-epileptic seizures in
early Huntington's disease. Rodrigues, Wild 16:6 452-454. Published 20
December 2016.
[2] Rodrigues FB, Wild EJ. Psychogenic non-epileptic seizures in
early Huntington's disease. Pract Neurol 2016;16:452-454
doi:10.1136/practneurol-2016-001423.
The only thing that I can disagree with in Jonathan Schott and Martin Rossor's article on the palmomental reflex in the December issue of Practical Neurology is their plea that I should stop scraping. I have found that the palmomental reflex can be made more specific for detecting brain damage by applying the orange stick or car key to the hypothenar rather than the thenar eminence. A positive palmomen...
The only thing that I can disagree with in Jonathan Schott and Martin Rossor's article on the palmomental reflex in the December issue of Practical Neurology is their plea that I should stop scraping. I have found that the palmomental reflex can be made more specific for detecting brain damage by applying the orange stick or car key to the hypothenar rather than the thenar eminence. A positive palmomental reflex sign is present if there is a mentalis twitch in at least seven out of ten successive scratches.
While I agree that the test has no role in the diagnosis of dementia or Parkinson's disease it may still have useful application in the investigation of psychosis and obsessional compulsive disorder. A positive quantitative palmomental reflex in a person under 60 would make me consider neuroimaging to look for structural cerebral abnormalities.
Similar caveats to those put forward by Schott and Rossor for the palmomental reflex apply to the glabellar tap (Myerson's sign). It is an accoutrement that impresses patients but is redundant in the evaluation of Parkinsonism. However, there are instances where it can be helpful. Some years ago I saw a woman of 45 who presented with physical fatigue. She had a hangdog posture, a monotonous voice, did not swing her arms when walking and had a sad face. She had seen several physicians already and carried the label of chronic fatigue syndrome. On examination she had a positive glabellar tap sign. When she returned for follow up a few months later she had developed a clear sequence effect (motor decrement) on finger tapping and I made a firm diagnosis of Parkinson's disease. Primitive reflex testing is quick and simple and may still have a place in the research screening of normal elderly people for neurological disease. I will continue to teach the palmomental reflex and the glabellar tap sign to medical students but emphasise the limitations highlighted by Schott and Rossor. Perhaps the Editors will consider a neuromythology series on useless research scales and operational criteria for the diagnosis of neurological disease when the physical signs series is completed?
We were interested to read the recent case study presented by
Rodrigues and Wild in the current edition of Practical Neurology where
they discussed "Psychogenic non-epileptic seizures in early Huntington's
disease"[1]. The authors gave an in-depth account of the clinical profile
of a 51-year-old male with early Huntington's disease (HD) who presented
with repeated episodes of repetitive, purposeless, c...
We were interested to read the recent case study presented by
Rodrigues and Wild in the current edition of Practical Neurology where
they discussed "Psychogenic non-epileptic seizures in early Huntington's
disease"[1]. The authors gave an in-depth account of the clinical profile
of a 51-year-old male with early Huntington's disease (HD) who presented
with repeated episodes of repetitive, purposeless, complex behaviours,
uncharacteristic of HD and discussed the process they followed before
diagnosing psychogenic non-epileptic seizures. Rodrigues and Wild then
went on to conclude that functional neurological symptoms and dissociative
phenomena are a common feature of early HD, particularly in the period
immediately post-diagnosis.
However, this is very different to our own clinical experience. Although
we have not prospectively undertaken a study to look specifically for
this, we have retrospectively analysed our cohort of over 700 patients
that we have seen over the last 20 years. Over this time we could only
identify two individuals who could be described as having a functional
neurological disorder. Furthermore, upon review of the literature we can
only find one case study reporting a psychogenic movement disorder in
preclinical HD [2] and a further case study of a psychogenic gait disorder
that was presented as a poster at the 2013 Sydney Movement Disorders
Conference.
Therefore, we feel that the claim by Rodrigues and Wild is somewhat
misleading -that this is a common feature of early HD. In our experience a
significant proportion of patients experience psychiatric symptoms in
early HD which can take the shape of increased anxiety and
obsessional/compulsive type behaviours and as such patients can exhibit
repetitive stereotypic actions. They do not however, commonly present with
features that would be consistent with a psychogenic disorder and it is
important that the prevalence of such symptoms is not inflated. We
acknowledge that the behaviors presented in this case study as evidenced
by the video [helpfully included in the supplementary data], are not
consistent with anxiety or OCD, but we consider this to be a relative
rarity in HD. In our opinion, an HD patient presenting with physical,
cognitive or psychiatric features that are not consistent with the common
profile of the disease should be thoroughly investigated to rule out all
possible organic causes and only reluctantly should these symptoms be
attributed to a non-organic process.
References
1. Rodrigues, F.B. and E.J. Wild. Psychogenic non-epileptic seizures
in early Huntington's disease. Pract Neurol 2016.
2. Soltan, W., et al. Abnormal gait and bradykinesia in the preclinical
phase of Huntington's disease - psychogenic movement disorder? Acta
Neuropsychiatr 2011;23(6):315-7.
In his recent Neuromythology article1 on the Babinski sign, Professor
Kiernan repeats the oft quoted recommendation regarding the best method
for testing the plantar response, which is to:
'Run a car key (figure 1; or as some have suggested, a most expensive
motor car key...) along the lateral border of the sole.'
It will not surprise many readers of Practical Neurology to learn
th...
In his recent Neuromythology article1 on the Babinski sign, Professor
Kiernan repeats the oft quoted recommendation regarding the best method
for testing the plantar response, which is to:
'Run a car key (figure 1; or as some have suggested, a most expensive
motor car key...) along the lateral border of the sole.'
It will not surprise many readers of Practical Neurology to learn
that the author of this particular recommendation was the late Professor
Henry Miller and moreover that he was proscriptive with regard to the
precise type of ignition key. In his introduction to the book 'Remembering
Henry'1, reflecting on the remarkable life and career of one of the
undoubted pioneers of modern British neurology (and prolific music
critic), the late Lord Walton of Detchant wrote:
'Books could be (and probably will be) filled with quotations from
his tongue and from his fertile pen, some few of which were hallowed for
posterity as 'Henry Millerisms' in a popular medical journal. Who can
forget such comments as: 'The best instrument for obtaining the plantar
response is the ignition key of a Bentley'; or, 'Hemiplegic multiple
sclerosis is a rarity and is to be diagnosed only by me'?'
Henry George Miller (1913-1976) became Professor of Neurology at
Newcastle University in 1964. This was the second chair in neurology to be
established in the UK (Roger Gilliat having been appointed as professor of
clinical neurology at the Institute of Neurology, Queen Square in 1962).
He is best known for his work on multiple sclerosis (publishing the first
ever therapeutic trial in 19532) and accident neurosis. Henry was
successively Dean of Medicine (1966-1968) and Vice Chancellor (1968-76) of
Newcastle University, served as Secretary-General-Treasurer of the World
Federation of Neurology and Chairman of the medical panel of the MS
Society, and held visiting chairs in Australia, Canada and the USA.
References
1. Remembering Henry. LOCK S, WINDLE H (Editors). BMJ.
The Devonshire Press. 1977.
2. Acute disseminated encephalomyelitis and acute disseminated sclerosis;
results of treatment with ACTH. MILLER HG, GIBBONS JL. BMJ.
1953;2(4850):1345-1348
This sensitive review is very welcome, as in our experience, most
patients with functional disorders are told by specialists what they do
not have. I would be much more inclined to refer patients if this kind of
approach was more common. It is one reason why relatively few of the
patients we see in primary care are referred for specialist attention.
Specialists are seeing only the tip of the primary care functional
iceb...
This sensitive review is very welcome, as in our experience, most
patients with functional disorders are told by specialists what they do
not have. I would be much more inclined to refer patients if this kind of
approach was more common. It is one reason why relatively few of the
patients we see in primary care are referred for specialist attention.
Specialists are seeing only the tip of the primary care functional
iceberg. Referral rates vary widely depending variously on levels of
experience, resilience, tolerance of uncertainty and access to peer or
specialist support.
One advantage GPs have over our specialist colleagues is that we get
to know our patients over many years - which is how long it may take to
discover the biography behind their functional symptoms. A second
advantage we have is a knowledge of their family and social context within
which they experience their symptoms enabling us to take a systemic
approach. We have more in common with Oliver Sacks- who rediscovered the
importance of narratives divulged slowly, and used to visit his patients
at home like his father, a London GP, than we do with our younger
neurological colleagues.
It's worth remembering that a clinical history is not narrative and
biography is not psychology. Stone warns against framing functional
neurological symptoms in psychological terms, which I would agree with -
mental illness, if it co-exists ought to be seen as a co-morbidity rather
than a primary cause. But Stone's approach is still biomedical and lacks
the systemic approach that time, continuity and contextual factors
illuminate. I recently invited older GPs to talk to trainees about their
favourite patients. Many described patients who were struck with their
functional symptoms for years, decades even - in a state of narrative
chaos, before something changed and they found some kind of peace with
themselves and were much better able to live with their symptoms. In
narrative medicine this is a shift from chaos to quest, where making sense
takes over from searching for a cure. There are many ways of making sense
of functional symptoms and my main concern about Stone's approach is that
usually it's most honest to admit we just don't (yet) know.
Dear Editor,
Show MoreThomas Brown provided a helpful recent review of pure autonomic failure (PAF) in this journal1. However, there is one very important point which I would wish to add. The diagnosis of this rare condition should be made with extreme caution in the early years of presentation. The first case in the review had a diagnosis of PAF made just two years after symptoms began. In fact, other commoner causes of primary autonomic failure may declare themselves many years after the symptoms first begin, and I have seen a number of such cases during my time at the autonomic unit in Queen Square. A rough rule of thumb used to be that at least five years should pass before making a definitive diagnosis of PAF2. More recent evidence suggests that even longer may be required. A third of cases already with symptoms suggestive of PAF for an average of 5 years were found to have an alternative diagnosis with subsequent follow up for a further four years3. Alternative diagnoses included other synucleinopathies such as Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy.
For many years attempts have been made to find reliable ways to distinguish PAF from other causes of primary autonomic failure. PAF is seen classically as a post-ganglionic disorder whilst multiple system atrophy is seen as a pre-ganglionic form of primary autonomic failure. Utilising this pathophysiological difference, a variety of differentiating tests have been attempted....
We came across the pages of the article of Nashef and Leach recently released to the scientific community through the Practice Neurology with a great enthusiasm.1 The authors have not only had courage, but have had special ability in touching on such an important matter in a scientific and subtle manner simultaneously. As we know, along the past twenty years there has been exponential growth in the number of articles published on SUDEP with a triple increase in this scientific production in the last ten years.2 Therefore a great scientific breakthrough in SUDEP has been established with regard to epidemiological aspects, specific risk factors, mechanisms involved and possible preventive measures (if they really exist) 3. And yet, it is very well defined that the main risk factor for SUDEP is the presence and number of generalized tonic-clonic seizures (GTCS)3 and the best way to avoid a tragic event is to control these GTCS. In parallel, there is also an imperative issue in relation to all these aspects: how, when, where, why and what patients should we address on SUDEP? Despite the great effort of epileptologists and elegant studies already published, the discussion on SUDEP with patients is still a matter of debate among experts.4 In order to enable this debate, we will have to somehow let the conservative side and consider the current numbers that demonstrate that 1 in every 1000 young adults and 1 in every 4500 children with epilepsy may suddenly die. 5 And more, accor...
Show MoreStone and Carson(1) say:
‘Non-organic refers to things unrelated to living matter,… This is a word that cannot be used to describe conditions suffered by living human beings.’ They refer ‘to the OED sense: “something characterised by structural or other pathological change in an organ or organs”. They acknowledge it was useful ‘in the 19th century when neurologists first saw the pathology of multiple sclerosis or motor neurone disease. But what about genetic generalised epilepsy or migraine—pathological, but not necessarily structural, or at least no more so than, for example, unipolar depression where there is quite substantial evidence for structural changes. ’(2)
They are right to point out the difficulties in separating ‘functional and non-organic’ disorders from those with structural or ultrastructural abnormalities but they should not be ‘blackballed from the club of legitimate conditions because of the difficulty in establishing their veracity.’
Most of us understand that epilepsy, migraine and spasmodic torticollis, for example, have underlying structural or other subtle abnormalities; the fact that modern techniques don't always disclose the organic basis does not mean they are psychogenic, do not exist, or are illegitimate.
Functional was originally the result of altered function (rather than structure) of an organ, system, etc.; but its meaning confusingly changed to a psychological cause as opposed to a physical one. The term...
Show MoreWe thank Dr Hughes for his thoughtful letter and his previous extensive comments as part of the reviewing process.
The main issue Dr Hughes has raised is the possibility of another local structural lesion. He asks that “Some cross checking with digital examination of the floor of the mouth, palpation of the tongue, or the results of attempts by a clinician to correct the position of the tongue may be all that is required to confirm or refute the working diagnosis.
We had already addressed this in our paper “The ENT and oral maxillofacial surgeons had noted a small post-traumatic neuroma/granuloma at the left retromolar space but with no other oral structural abnormality “. And expanded on this in response to the query in Dr Hughes’s first review, “No structural lesion to the tongue muscle or its attachments was observed on clinical examination by an experienced ENT surgeon or on independent examination by an oral maxillofacial surgeon”.
We feel our explanation as outlined in our paper remains the most plausible.
Dear Editors,
Show MoreCarr AS, et al. Pract Neurol 2017;17:218–221. doi:10.1136/practneurol-2016-001491
In the interests of enhancing our understanding of bulbar function from the perspective of the jobbing clinical neurologist, I am writing to you regarding a publication in this month’s edition of Practical Neurology (Carling et al.). As it stands I do not think the case report does justice to the scholarship of the seven authors.
I enjoyed formally refereeing the paper on two separate occasions (enclosed), and offered a third comment (“I think the patient has a lingual nerve palsy and a tethered tongue on the left, both occurring as a complication of surgery”) by email, in the hope that it could appear in a little box as “reviewer’s comments”. I now think that I would have provided a better service to PN if I had sent this single sentence to you instead of the first review.
In the report, the authors champion the careful approach required in patients with very focal abnormalities involving the lower cranial nerves and the muscles they innervate. They describe in pictures and very useful tables—copies of which are already on my office wall—the detailed knowledge that is required to avoid misattribution in the crowded and inaccessible house of the structures involved in bulbar function.
The patient concerned had a third molar removed and postoperatively had a lingual nerve palsy. This complication is anticipated, and is included in the consent pro...
Dear Editor,
We thank Prof Barker for sharing his thoughts and experience[1] on our report of psychogenic non-epileptic seizures in Huntington's disease[2]. We agree that neuropsychiatric manifestations are extremely common in HD and most cases of unusual behaviours or movements would not fall into the category of functional disorders. Moreover we certainly do not wish to give the impression that non- epileptic...
Dear Editor,
The only thing that I can disagree with in Jonathan Schott and Martin Rossor's article on the palmomental reflex in the December issue of Practical Neurology is their plea that I should stop scraping. I have found that the palmomental reflex can be made more specific for detecting brain damage by applying the orange stick or car key to the hypothenar rather than the thenar eminence. A positive palmomen...
Dear Editor,
We were interested to read the recent case study presented by Rodrigues and Wild in the current edition of Practical Neurology where they discussed "Psychogenic non-epileptic seizures in early Huntington's disease"[1]. The authors gave an in-depth account of the clinical profile of a 51-year-old male with early Huntington's disease (HD) who presented with repeated episodes of repetitive, purposeless, c...
Dear Editor,
In his recent Neuromythology article1 on the Babinski sign, Professor Kiernan repeats the oft quoted recommendation regarding the best method for testing the plantar response, which is to:
'Run a car key (figure 1; or as some have suggested, a most expensive motor car key...) along the lateral border of the sole.'
It will not surprise many readers of Practical Neurology to learn th...
This sensitive review is very welcome, as in our experience, most patients with functional disorders are told by specialists what they do not have. I would be much more inclined to refer patients if this kind of approach was more common. It is one reason why relatively few of the patients we see in primary care are referred for specialist attention. Specialists are seeing only the tip of the primary care functional iceb...
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