Facial onset sensory and motor neuronopathy (FOSMN syndrome) is a rare neurodegnerative disorder of unknown etiology. Clinically it may resemble ALS, albeit only in the motor component. The marked sensory abnormalities, which dominate the phenotype in the early stages of the disease process, and the prolonged survival, clearly argue against an ALS phenotype. In this […]
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Stopping Tysabri treatment in multiple sclerosis: disease on the rebound.
Many moons ago it would have been unthinkable that MS treatment would take about 2-3 hours a month. It would have been impossible to imagine that you could simply turn up to your local hospital, have an infusion while you read a book and then tell the ward staff that you would see them again […]
Sudden changes in cognition in MS: the isolated cognitive relapse.
Of all the types of functional difficulties that a patient with multiple sclerosis (MS) can experience, cognitive change remains the area that is hardest to delineate. MS patients may experience changes in memory, attention, reasoning and executive function that can be subtle and therefore hard to detect clinically, but significant enough to compromise their daily […]
Dystonia and the inspired sensory tricks
Sensory tricks, also called geste antagoniste, is a typical feature of primary and secondary dystonias. The sensory tricks may take many forms and if not recognized, may lead to misdiagnosis and mislabeling as “psychogenic”. Importantly, the sensory tricks are associated with neurophysiological changes, including normalization of TMS parameters such as intracortical facilitation as well as […]
Glutamate and memory: A novel paradigm in MS
Glutamate is a major excitatory neurotransmitter in the human brain vital for multiple functions, including memory and cognition. Importantly, excessive glutamate activity may be harmful to the CNS, leading to neurodegeneration. In this issue of JNNP, Muhlert and colleagues report a link between glutamate levels and memory, a unique link in MS. Given that forgetfulness […]
Genetic mutations: Predisposing but not causative?
Hereditary IBM is an autosomal recessive myopathy characterized by distal muscle weakness, and the absence of the classical IBM phenotype. mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene has been linked with development of this myopathy. However, there has been a paucity of genotype-phenotype correlation studies, critical for understanding disease mechanisms. In this issue […]
Thunderclap headache and subarachnoid haemorrhage: yes, it’s as bad as it sounds.
Aside from publishing ground-breaking insights into the mechanisms of neurological disease, JNNP also publishes many manuscripts that focus on common hard-to-manage clinical problems, things that neurologists come across on a daily basis. In this issue of JNNP, there is a very interesting paper from Bakker and colleagues http://jnnp.bmj.com/content/85/8/885.abstract that concerns one of the most feared […]
MS and Pregnancy: Control the disease before conception for good outcomes?
Pregnancy has been traditionally associated with lower frequency of relapses and more quiescent MS disease activity. Consequently, cessation of medications is encouraged, and is necessary for some of the newer oral therapies. In this issue of JNNP the Italisn MS group publish an important and elegant paper documenting that the control of disease post-partum is […]
Stress and Parkinsons disease: A potential link
The era of the 20th century, while associated with tremendous progress, has also heralded the era of chronic diseases that were not prevalent in our ancestors. Stress has been portrayed, at least in the lay media and amongst patients, as an important factor in this. Stress is associated with definite physiological changes. In this issue […]
Neurology is the only real test of clinical acumen: discuss.
Of all the medical specialties it may be argued that neurology, more than any other, provides the most exacting test of one’s clinical skill. OK, I am a little biased but that does not mean I’m wrong. I mean, the echocardiogram got rid of the cardiology examination and the respiratory and gastro exams were […]