20 Nov, 14 | by Steve Vucic, Web Editor
The issue of whether excessive work may lead to increased weakness in hereditary neuropathy is a vexing one and critical for patient management. in this issue of JNNP this notion has been categorcially dismissed. There was no worsening weakness with overwork in a large CMT1A cohort.
Read more: http://jnnp.bmj.com/content/85/12/1354.abstract
Neurol Neurosurg Psychiatry 2014;85:1354-1358 doi:10.1136/jnnp-2014-307598
Is overwork weakness relevant in Charcot–Marie–Tooth disease?
- G Piscosquito1,
- M M Reilly2,
- A Schenone3,
- G M Fabrizi4,
- T Cavallaro4,
- L Santoro5,
- G Vita6,
- A Quattrone7,
- L Padua8,
- F Gemignani9,
- F Visioli10,11,
- M Laurà2,
- D Calabrese1,
- R A C Hughes2,
- D Radice12,
- A Solari1,
- D Pareyson1
- for the CMT-TRIAAL & CMT-TRAUK Group
+ Author Affiliations
18 Nov, 14 | by Arun Krishnan, Web Editor
In the last decade or so, we have seen numerous major advances in our understanding of multiple sclerosis (MS). While the condition was traditionally viewed as a disease of the brain white matter, this hypothesis has been turned on its head with the discovery that grey matter involvement occurs in MS. Furthermore, we now know that this can happen quite early in the disease course and that it may underlie physical disability. A lot of MS patients report cognitive changes that occur even in the earliest stages of the disease and it is very possible that these changes may be due to the loss of grey matter.
In the current issue of JNNP, Haider and colleagues present a very interesting study that demonstrates that involvement of the deep grey matter may play an important role in the development of disability in MS http://jnnp.bmj.com/content/85/12/1386.abstract . In addition, they also show that these changes were associated with accumulation of iron in the brain. This is a very important finding as iron has been postulated to play a role in the development of brain oxidative injury.
This is a very interesting study which provides important insights into our understanding of the pathology of MS.
4 Nov, 14 | by Steve Vucic, Web Editor
ALS is a rapidly progressive neurodegenerative disorder of the motor neurons with median survival of 3-5 years. The site of disease onset, and the timing of disease onset remain controversial, although
a sudden and catastrophic degeneration of the motor neurons does occur. In this issue of JNNP a though provoking review by Eisen and colleagues suggests a long term pre clinicla period, perhaps stretching beck to the in utero period. In an
accompanying letter, neuronal dysfunction (preceding degeneration) was reported in a zebra fish model. Interestingly, this dysfunction was slowed down by riluzole. The question remains as to whether we are too late by the time the patients present. But then, who should be treated/monitored. The genetic cases, or all relatives of sporadic cases. Clearly there are more answers than questions, although headway has been made, and more research is needed.
27 Oct, 14 | by Arun Krishnan, Web Editor
There are literally hundreds of different causes for peripheral neuropathy. While in most cases a decent history and a few blood tests can provide a potential cause, which often turns out be metabolic in nature (e.g diabetes, impaired glucose tolerance), in some patients a diagnosis proves elusive despite extensive investigations. This is a major problem as specific treatments depend largely on finding the underlying cause of neuropathy.
Recently it has become clear that there are patients who have neuropathy due to unknown causes who may harbour a genetic mutation that is causing the condition. This obviously has significant implications not just for the patient themselves, but also for other family members. The spectrum of genes associated with the most common form of inherited neuropathy, Charcot-Marie-Tooth disease has expanded significantly in recent years, to the point where now more than 50 genes have been identified with the condition. Genetic testing for a lot of these is difficult and time-consuming, which often means that the exact mutation remains undiscovered.
The development of new techniques in gene testing has changed all of this and there is an interesting paper in this month’s issue of JNNP which outlines this very nicely http://jnnp.bmj.com/content/85/11/1265.abstract . Klein and colleagues have reported on the utility of whole exome sequencing (WES) in the investigations of patients who have a neuropathy that is thought to be genetic in origin, but where previous testing procedures have proven to be futile. The authors demonstrate that this novel genetic testing procedure may help provide a genetic diagnosis in these cases. This obviously has critical importance for the patients themselves, who would otherwise have to carry on without a clear diagnosis, and for their families for whom genetic counselling depends so much on obtaining a precise diagnosis.
26 Oct, 14 | by Steve Vucic, Web Editor
Over the last 5 years, the therapy for RRMS has radically changed. Oral therapies have come to the fore, leaving the injectables a “not so flavor of the month”. In this months issue of JNNP the BENEFITS study group reports on utility of betaferon in CIS. The time to second relapse was significantly longer when treated with betaferons.
Read more at:
Long-term impact of interferon beta-1b in patients with CIS: 8-year follow-up of BENEFIT
- G Edan1,
- L Kappos2,
- X Montalbán3,
- C H Polman4,
- M S Freedman5,
- H-P Hartung6,
- D Miller7,
- F Barkhof8,
- J Herrmann9,
- V Lanius10,
- B Stemper10,
- C Pohl10,11,
- R Sandbrink6,10,
- D Pleimes12
- for the BENEFIT Study Group
J Neurol Neurosurg Psychiatry 2014;85:1183-1189 doi:10.1136/jnnp-2013-306222
20 Oct, 14 | by Arun Krishnan, Web Editor
Epilepsy remains one of the most common and disabling neurological conditions. Even though there has been some progress in educating the public about epilepsy, patients with this condition suffer significantly, not just from seizures, but also from the social and psychological consequences of an illness that continues to remain a stigma in many parts of the world. There have been lots of new treatments for epilepsy, in the form of new drugs that target different brain pathways. Nevertheless, there has been little change in the outcomes for patients who do not benefit from drug treatments. This remains a fairly high proportion of patients, in the order of 20-40%. Surgery for epilepsy is an option for these patients and it can be a life-changing decision for some.
In the present issue of JNNP, Nowell and colleagues from London have presented a very well written state-of-the-art review that outlines the surgical options for patients with intractable epilepsy http://jnnp.bmj.com/content/85/11/1273.abstract . In addition to resection procedures, they also discuss the role of stereotactic radiosurgery and laser ablation as methods of removing the seizure focus. They also outline the importance of early referral to centres of excellence as an important step in the management of patients who fail to respond to drug treatment.
17 Oct, 14 | by Steve Vucic, Web Editor
Limbic encephalitis (LE) mat have an underlying autoimmune etiologiy. over the last decade numerous antibodies have emerged as potenital causative agents, and the antibodies have been directed against external epitopes of specific receptors. In an upcoming issue of JNNP, Onugoren and colleagues reaffirm the association between GABAB and AMPR receptor antibodies and LE. Importantly neoplastic causes need to be considered.
Read more at : http://jnnp.bmj.com/content/early/2014/10/09/jnnp-2014-308814.full
Typical MRI changes in LE
8 Oct, 14 | by Steve Vucic, Web Editor
Cholinesterase inhibitors (ChIs) improve cholinergic transmission and thereby may lead to improved cognitive function in PD, although the risk of side-effects such as falls may be potentially increased. In an upcoming issue of JNNP (On line first) Pagano and colleagues conducted a meta-analysis to further assess these issues. The results show a clear improvement of cognitive function in PD, without an increase in risk of falls, although the risk of tremor and adverse drug reactions was increased.
Read more at: http://jnnp.bmj.com/content/early/2014/09/15/jnnp-2014-308764.abstract
J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2014-308764
Cholinesterase inhibitors for Parkinson’s disease: a systematic review and meta-analysis
8 Oct, 14 | by Steve Vucic, Web Editor
The long-term treatment of CIDP is a vexing one often mired in lack of data from randomized controlled trials. The ICE study suggested that a maintenance IVIg dose of 1g/kg every 3 weeks is associated with good therapeutic outcome. Subsequent studies have suggested that steroids may lead to remission in a greater proportion of patients, although the side-effects may be limiting. The question remains about the longevity of therapy and at what point therapies in CIDP can be stopped. In an upcoming issue of JNNP, Nobile-Orazio report on outcomes in CIDP patients in whom IVIg and steroid therapy were stopped. Interestingly, while a similar proportion of patients tended to relapse in both treatment groups (IVIg vs steroids) the time to relapse was longer in the steroid group, supporting previous studies. The question of harmful effects of steroids, however, remains!
Read more http://jnnp.bmj.com/content/early/2014/09/22/jnnp-2013-307515.abstract
J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2013-307515
Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP
- Eduardo Nobile-Orazio1,
- Dario Cocito2,
- Stefano Jann3,
- Antonino Uncini4,
- Paolo Messina5,
- Giovanni Antonini6,
- Raffaella Fazio7,
- Francesca Gallia1,
- Angelo Schenone8,
- Ada Francia9,
- Davide Pareyson10,
- Lucio Santoro11,
- Stefano Tamburin12,
- Guido Cavaletti13,
- Fabio Giannini14,
- Mario Sabatelli15,
- Ettore Beghi5
- for the IMC Trial Group
7 Oct, 14 | by Arun Krishnan, Web Editor
Of the many conditions in medicine that are thrown into the ‘too hard basket’, tinnitus, that perception that there is constant noise in your ear even when there is no clear source, would have to be one of the most prevalent. I see a lot of GP referral letters that provide an electronically generated list of medical conditions that the patient has experienced since the day they first took breath on this earth, and on those occasions when I have enough left in the tank to sit down and read this long and all too frequently inaccurate list, I will often see a mention of tinnitus at some stage in the past. This is not entirely unexpected as it affects a significant proportion of the population. In my experience as a neurologist, I have never actually seen anyone receive any treatment for tinnitus and it is tempting to assume that there is simply nothing you can do about it.
In this issue of the journal, Minen and colleagues from Harvard have provided an outstanding review that explores management of tinnitus http://jnnp.bmj.com/content/85/10/1138.abstract . They have approached this condition from a neuropsychiatric perspective, highlighting the psychiatric disorders that often develop in patients who are forced to live with this condition. In addition to providing a through overview of the clinical features that may occur in this patient group, they provide sound advice on the various treatment possibilities, both pharmacological and non-pharmacological, that are available for patients with tinnitus.