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 […]
Month: July 2014
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 […]
GBS in Asia: A must read!
Guillain-Barre syndrome (GBS) is an autoimmune neuropathy with a heterogeneous etiology affecting both the myelin and the axon. GBS is probably the most frequent cause of a rapidly progressive neuropathy in the Western world. Although the demyelinating variant is more frequent in Western forms of GBS in Asia, the axonal form (termed AMAN) is more […]
CIDP: Diversity in therapy?
CIDP is an autoimmune disorder of the peripheral nerves. As its name implies, the disorder is chronic and long-term treatment (therapeutic dependance) may be frequently observed. The factors predicting such treatment dependence need to be elucidated in order to achieve a more appropriate patient management. In this issue of the journal, Rabin and colleagues identify […]
Pregnancy and MS. The need to commence treatment post-partum?
While pregnancy is associated with a reduced risk of relapses, caution is required in the post-partum period. In this issue of JNNP, Portaccio and colleagues elegantly demonstrate an increased risk of relapse in the post-partum period. Greater disease activity before and during pregnancy were reported as predictors of an increased chance of a relapse […]
Multiple sclerosis and neuroprotection: is laquinimod the answer?
Multiple sclerosis (MS) for most people engenders troublesome images of young people with disability, in wheelchairs, unable to care for themselves. The mere mention of the term elicits these fears. Surprisingly, the potential MS-mimic conditions tend to get a less fearful response. In my own practice, I have noticed that telling patients that their symptoms […]
New criteria for FTD: They work!
Frontotemporal dementia (FTD) is a devastating neurodegenerative disorder predominantly affecting the frontal and temporal regions of the brain, although the pathology may be more general. In the absence of a diagnostic test, the diagnosis of FTD remains clinically and pathologically based. Recently, novel clinical and pathological criteria have been developed to encompass the heterogeneous nature […]