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A hill walker with long chains
  1. David P Breen1,
  2. Victoria Stinton2,
  3. Rajith N De Silva3
  1. 1 Department of Neurology, Addenbrooke's Hospital, Cambridge, UK
  2. 2 Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women's NHS Foundation Trust, Liverpool, UK
  3. 3 Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK
  1. Correspondence to Dr David P Breen, Department of Neurology, Box 165, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK; dpbreen1{at}

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Case report

A previously healthy 42-year-old man noticed that his right foot was ‘kicking against rocks’ when he was hill walking. Over the next 8 years, he developed slowly worsening mobility, eventually having to rely on a stick due to right leg ‘spasms’. His cognition, speech, swallowing, upper limb function and sphincters were unaffected. There was no family history of neurological disease.

On examination, his cranial nerve function was normal. In the upper limbs, he had exaggerated reflexes (particularly on the left) and mild left-sided incoordination. In the lower limbs, tone was increased with sustained clonus bilaterally. There was MRC grade 4+ power in all muscle groups. Knee and ankle reflexes were pathologically brisk. Plantar responses were extensor. There was mild hyperaesthesia up to the ankles bilaterally. Vibration sense was reduced (to the levels of the right anterior superior iliac spine and the left tibial tuberosity). Proprioception was reduced (to the right ankle and the left knee). Gait was spastic and unsteady. Romberg's test was positive.

Question 1

What investigations would you perform?

The following blood tests were normal or negative: full blood count, renal and liver function, bone profile, vitamin B12, folate, copper, thyroid function, antinuclear antibody, lupus anticoagulant, angiotensin-converting enzyme, anti-aquaporin-4 antibody, vitamin E, HIV, human T-cell lymphotropic virus, syphilis, lysosomal enzymes, phytanic …

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  • Contributors DPB conceived the idea and wrote the paper. VS undertook the molecular genetics analysis and interpretation. RNDS managed the patient and edited the paper.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Jeremy Chataway, London, UK.

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