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Archive for October, 2014

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 . 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 . 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 :


Typical MRI changes in LE

Figure 2

Cholinesterase inhibitors in Parkinsons disease?

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:


J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2014-308764
  • Movement disorders
  • Research paper

Cholinesterase inhibitors for Parkinson’s disease: a systematic review and meta-analysis

IVIg versus methylprednisone in CIDP: The treatment dilemmas!

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!


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J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2013-307515
  • Neuromuscular
  • Research paper

Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP

Tinnitus: don’t just “live with it”, let’s do something about it

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 . 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.

Neurological disorders: bad to the bone.

1 Oct, 14 | by Arun Krishnan, Web Editor

It can be tempting to think of the brain, nervous system and the practice of neurology in general as existing in their own discrete compartment, separate from the rest of the body and from other facets of medicine. After all, there is a blood-brain barrier and a blood-nerve barrier and I can’t think of any other organ system that has such a well-developed system of insulation. Neurologists also like to separate themselves from the masses and this is readily achieved by throwing around names of anatomical structures that no one has ever heard about. The clinical reality however is quite different. We know that systemic diseases, such as diabetes, kidney failure and vascular disease all have the propensity to affect the nervous system but there is now increasing evidence that neurological illness can have significant impact on other organs, especially bone. Neurologists therefore need to now, more than ever, look at the patient as a whole.

There is significant evidence that epilepsy and multiple sclerosis are associated with osteoporosis and the current issue of JNNP has an interesting meta-analysis that explores the association of Parkinson’s Disease (PD) and osteoporosis . The authors put forward a number of potential explanations, including vitamin D deficiency and also address the possible deleterious effects of levodopa, the most effective treatment for PD. Could it be that patients who are taking levodopa are more mobile and therefore at a greater risk of falls?

This review is timely, given that bone health is critical in elderly patients, particularly given the potentially fatal consequence of fractures in that group. These days we routinely assess patients taking anti-epileptic medications for changes in bone health. Should we be doing the same for our PD patients?

Latest from JNNP

Latest from JNNP