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The prodigal Fasciculus
In the theme of cranial nerve zero and the lymphatic system of the brain (PN passim), A Fo Ben enjoys a discovery hidden in plain sight. There is something of a general metaphor for forgetfulness in the story of neuroanatomical discoveries that become lost in the annals of history, only to be rediscovered scores of years later. The vertical occipital fasciculus (VOF) is the only major fibre bundle connecting dorsolateral and ventrolateral visual cortex. Originally discovered by no less an anatomist as Wernicke, it quickly became controversial: but how so? It is only half an inch from the surface of the brain and so during over eager dissection you could actually rip the VOF right off and never see it. Yeatman and colleagues saw it in every hemisphere they studied. Kill the fatted calf! The prodigal vertical occipital fasciculus has returned!
Proc Natl Acad Sci USA 2014;111:E5214–23.
Towards a new classification for gliomas
It is possible to use genetic markers directly from cancer tissue to produce a molecular fingerprint. This is no better seen than in glioma biology where there are mutations in: the TERT promoter, IDH, and codeletion of chromosome arms 1p and 19q. Is it possible to use these markers on a group level to identify meaningful subgroups for treatment and prognosis? 1087 glioma samples were classified in to five principal groups. For example, 29% of grade II or grade III cases had all three markers compared to less than 1% of grade IV cases. The strongest association was with oligodendroglial histology. The reclassification identified important differences in ages at onset, overall survival, and associations with germline variants.
N Engl J Med 2015;372:2499–508.
Huntington's Chor-Ear
The internet is full of ‘clickbait’—articles with snappy titles to entice readers in for advertising revenue. You'll recognise titles such as, “7 photos that will show you that you have been eliciting tendon reflexes all wrong—and number 5 will shock you!” So a bone fide medical paper promising Huntington's disease presenting with chorea of the ears has to deliver… and deliver it does with two videos of flapping lugholes. The patient presented aged 28 with a year of involuntary movements and mood change, and was subsequently found to have 67 CAG trinucleotide repeats. Curiously he had no voluntary control over his external ear movements.
Parkinsonism Relat Disord 2014;20: 938–9.
Modest Mouse
Since the identification of noncoding expansions of a hexanucleotide repeat in the gene C9orf72 in people with motor neurone disease, we have been trying to work out just what this protein does. Transgenic mice with 100–1000 repeats developed RNA changes, poly(glycine-proline) dipeptide repeat proteins and altered nucleolin distribution without any behavioural phenotype of signs of neurodegeneration. A second study of mice with 500 repeats also identified similar RNA changes without the phenotype; however, by introducing an artificial microRNA that targets human C9orf72 they attenuated expression of the introduced transgene and the poly(glycine-proline) dipeptides.
Neuron 2015;88:892–901.
Neuron 2015;88:902–9.
Save the rainforest!
Aged rock musician and eco-enthusiast Sting was once relied upon to raise awareness of environmental disasters, such as Amazonian rain forest destruction. I wonder how he will respond to a 21st century challenge—deforestation of pubic hair? Crisis, what crisis? Not only are waxing enthusiasts at greater risk of folliculitis and secondary skin infection but Schmidtberger and colleagues remind us of cases of toxic shock and even partial thickness burns. Waxing is good news for fans of molluscs contagiosum; they are on the rise due to deficits in the mucocutaneous barrier following waxing. However lovers of all things fauna might have further tears to shed; there are fears for the future of the pubic louse. So, any volunteers to rehouse a lonely Phthirus pubis?
JAMA Dermatol 2014;150:122.