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Neurodegeneration in MS: A clue to diability?

12 Dec, 14 | by Steve Vucic, Web Editor

Corticla tarophy has been proposed as an imprtant pathophysiological mechanisms in disability development in progressive forms of multiple sclerosis.  A number of studies utilsing sophistcated MRI tehcniques have yielded such evidence.  In this issue of JNNP and elegant study demonstrated the importance of neurodegeneration at a pathological level, “reflected by a global reduction of neuronal density, the presence of acutely injured axons, and the accumulation of oxidised phospholipids and DNA in neurons, oligodendrocytes and axons“.  As such preventing degenration is the key, although the real question must be how can we revearse the process.  Will antioxidants, antiexcitotoxic agents work??

 

 

Read more at http://jnnp.bmj.com/content/85/12/1386.abstract

Forbes Norris Award for editor of JNNP-Professor Matthew Kiernan

12 Dec, 14 | by Steve Vucic, Web Editor

It gives me great pleasure to announce that Matthew Kiernan was awarded the highly prestigious Forbes Norris Award by the International ALS Alliance.
The Forbes Norris Award, first presented in 1994, honours the memory of Dr. Forbes “Ted” Norris (1928 – 1993), a neurologist who dedicated his career to helping people with ALS/MND. The purpose of this prestigious Award is to encourage a combination of two major qualities: management of and advances in understanding ALS/MND, to the benefit of people living with the disease. Some previous recipients have included Professor Nigel Leigh, Stanley Appel, Andrew Eisen, Pamela Shaw and more recently Leonard van den Berg to name a few, all very important names in the filed of ALS.
Once again well done Matthew for a wonderful achievement.

Stress and stroke

28 Nov, 14 | by Arun Krishnan, Web Editor

There are a number of risk factors that we commonly associate with stroke, including hypertension, smoking history, and diabetes. The current issue of JNNP explores the role of stress resilience in the aetiology of stroke http://jnnp.bmj.com/content/85/12/1331.abstract . The authors have assessed a large Swedish male population and have provided interesting insights into the role of stress in the development of stroke. They have demonstrated that low stress resilience during adolescence was associated with a subsequent higher stroke risk. They also note that the association was independent of socio-economic status and general physical health. The results are particularly interesting given the emerging associations between early life stress and the development of metabolic conditions, such as diabetes.

The authors suggest that their study highlights the importance of measures for stroke prevention incorporating ways of reducing psychosocial stress.

Working ok with CMT?

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
  • Neuromuscular
  • Research paper

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Multiple sclerosis: what is the role of iron?

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.

ALS: A long pre-clinical period. Does it start at conception?

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.

 

Genetic testing for peripheral neuropathy: we are entering a new era.

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.

Betaferon still works: A new ray of hope for the injectables?

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

Open AccessPatient's Choice

  1. G Edan1,
  2. L Kappos2,
  3. X Montalbán3,
  4. C H Polman4,
  5. M S Freedman5,
  6. H-P Hartung6,
  7. D Miller7,
  8. F Barkhof8,
  9. J Herrmann9,
  10. V Lanius10,
  11. B Stemper10,
  12. C Pohl10,11,
  13. R Sandbrink6,10,
  14. D Pleimes12
  15. for the BENEFIT Study Group

J Neurol Neurosurg Psychiatry 2014;85:1183-1189 doi:10.1136/jnnp-2013-306222

New frontiers in epilepsy surgery

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.

Expanding the antibody spectrum of limbic encephalitis!

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

Figure 2

Latest from JNNP

Latest from JNNP