Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

Charcot-Marie-Tooth type 2B (CMT2B) is clinically characterized by marked distal muscle weakness and wasting and a high frequency of foot ulcers, infections, and amputations of the toes because of recurrent infections. CMT2B maps to chromosome 3q13-q22. We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which causes the CMT2B phenotype in three extended families and in three patients with a positive family history. The alignment of RAB7 orthologs shows that both missense mutations target highly conserved amino acid residues. RAB7 is ubiquitously expressed, and we found expression in sensory and motor neurons

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles. (C) 2011 Elsevier B.V. All rights reserved

Unilateral seizures in a patient with hairy cell leukemia treated with interferon

A patient is described who developed unilateral seizures whilst being treated with recombinant interferon for hairy cell leukemia. Special features included the relatively low dose of interferon, the focal aspect of the epilepsy and the high resistance to anticonvulsants. Oligoclonal banding of cerebrospinal fluid proteins may have resulted from polyclonal activation of bone marrow plasma cells during interferon treatment. Disturbances of consciousness, dysphasia, visual hallucinations, upper motor neuron deficit, tremor, dizziness, numbness, myalgia and headache, all of them neurological complications of interferon treatment, are discussed. © 1985.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Recurrent brachial plexus neuropathy and giant cell arteritis

A 73-year-old woman presented with a recurrent form of sporadic brachial plexus neuropathy, the so-called Parsonage and Turner syndrome. This diagnosis is based on clinical and electromyographic findings. Interestingly a biopsy of the temporal artery demonstrated a giant cell arteritis. The clinical picture started 2 weeks after an upper respiratory tract illness. The possible viral etiology of giant cell arteritis is considered. We think an immunological rather than ischemic disturbance may have caused the recurrent brachial plexus neuropathy. This case report suggests that giant cell arteritis be considered in the investigation of the Parsonage and Turner syndrome. © 1990.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Impact of reimbursement restrictions on the choice of antiepileptic drugs: Belgian Study on Epilepsy Treatment (BESET)

Background: In Belgium, new and costly antiepileptic drugs (AEDs) are only reimbursed as second-tine treatment, after documented treatment with conventional and cheaper AEDs has failed. The objective of this study was to describe the treatment of epilepsy in Belgium and to analyze the impact of the reimbursement restrictions on the choice of AEDs. Methods: Between May and June 2003, a sample of 100 neurologists, representative of the entire neurological community in teaching, academic, and regional hospitals in Belgium, were personally interviewed on the basis of a structured questionnaire (modified Rand method). The questionnaire contained questions on treatment choices and strategies in adult epilepsy. Results: Unanimously, initial monotherapy was the preferred treatment strategy in all types of epilepsy. In the opinion of most neurologists, valproate was the first choice for idiopathic generalized and focal epilepsy with/without secondary generalization. Carbamazepine as their first choice for the treatment of focal epilepsy. New AEDs were most often prescribed as second-line therapy. Lamotrigine was the most frequently prescribed new AED and used for both generalized and focal epilepsy. It was followed by levetiracetam, topiramate and oxcarbazepine for focal epilepsy. In the absence of reimbursement restrictions, two new AEDs would be significantly more often prescribed as a first-tine therapy: lamotrigine for idiopathic generalized epilepsy and oxcarbazepine for focal epilepsy. Conclusions: The neurologists reached a high level of consensus on many of the key treatment questions. Monotherapy with valproate and carbamazepine was the standard treatment strategy in Belgium. Lamotrigine and less so levetiracetam, topiramate and oxcarbazepine were commonly prescribed as second-line AEDs. In the absence of reimbursement restrictions, lamotrigine and oxcarbazepine would be more frequently prescribed. (c) 2007 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved

Standards of care for adults with convulsive status epilepticus: Belgian consensus recommendations.

Status epilepticus (SE) is a significant health problem, affecting approximately 1,000 to 4,000 individuals per year in Belgium. A workshop was convened by a panel of neurologists from major Belgian centers to review the latest information relating to the definition, diagnosis and treatment of convulsive SE. The panelists sought to make recommendations for practising neurologists, but also primary care physicians and physicians in intensive care units when initiating emergency measures for patients with convulsive SE. As there is an association between prolonged seizures and a poor outcome, the importance of early (within the first 5 minutes of seizure onset) and aggressive treatment is to be stressed. In addition to general systemic support (airway, circulation), intravenous administration of the benzodiazepines lorazepam or diazepam is recommended as first-line therapy. Intramuscular midazolam may also be used. If SE persists, second-line drugs include phenytoin or valproate, and third-line drugs the barbiturate phenobarbital, the benzodiazepine midazolam, or the anaesthetics thiopental or propofol, or eventually ketamine. If the patient does not recover after therapy, monitoring of seizures should involve an electroencephalogram to avoid overlooking persistence of clinically silent SE. As a general rule, the intensity of the treatment should reflect the risk to the patient from SE, and drugs likely to depress respiration and blood pressure should initially be avoided. If initial treatment with a benzodiazepine fails to control seizures, the patient must be referred to the emergency unit and a neurologist should be contacted immediately

Standards of care for adults with convulsive status epilepticus: Belgian consensus recommendations

Status epilepticus (SE) is a significant health problem, affecting approximately 1,000 to 4,000 individuals per year in Belgium. A workshop was convened by a panel of neurologists from major Belgian centers to review the latest information relating to the definition, diagnosis and treatment of convulsive SE. The panelists sought to make recommendations for practising neurologists, but also primary care physicians and physicians in intensive care units when initiating emergency measures for patients with convulsive SE. As there is an association between prolonged seizures and a poor outcome, the importance of early (within the first 5 minutes of seizure onset) and aggressive treatment is to be stressed. In addition to general systemic support (airway, circulation), intravenous administration of the benzodiazepines lorazepam or diazepam is recommended as first-line therapy. Intramuscular midazolam may also be used. If SE persists, second-line drugs include phenytoin or valproate, and third-line drugs the barbiturate phenobarbital, the benzodiazepine midazolam, or the anaesthetics thiopental or propofol, or eventually ketamine. If the patient does not recover after therapy, monitoring of seizures should involve an electroencephalogram to avoid overlooking persistence of clinically silent SE. As a general rule, the intensity of the treatment should reflect the risk to the patient from SE, and drugs likely to depress respiration and blood pressure should initially be avoided. If initial treatment with a benzodiazepine fails to control seizures, the patient must be referred to the emergency unit and a neurologist should be contacted immediately.SCOPUS: re.jinfo:eu-repo/semantics/publishe

Anti-epileptogenesis research: the clinical relevance

In recent years, different research lines have examined the epileptogenic process in order to understand the different stages in this process, and with the hope that early recognition and intervention could prevent chronic epilepsy in patients with epileptic seizures. In animals, acquired epilepsy is studied most commonly with kindling models, status epilepticus models and traumatic brain injury models. Molecular genetic studies substantially help to understand age-specific channel and receptor abnormalities. Major progress has been made in recent years and we are now waiting for the first large scale multi-center clinical trials that test the possible anti-epileptogenic properties of anti-epileptic drugs or other compounds in well defined patient groups. In clinical practice, a structured diagnostic work-up in all patients with recurrent seizures is a first and necessary step in the recognition of patients at risk for developing chronic and refractory epilepsy

Epilepsy and driving in Belgium: Proposals and justification

Proposals about the regulations and medical criteria concerning epilepsy and driving, originally drawn up by the Commission on Epilepsy and Risk from the Belgian League against Epilepsy were discussed and amended by a panel of representatives of several scientific societies and of all Belgian universities in order to establish a broad consensus among Belgian epileptologists. The history of driving licencing in Belgium is discussed and some background information given to put the regulations in perspective. A proposal is made for an acceptable level of risk. Subsequently, a quantification of risk for different situations concerning seizures is attempted. The proposals will be discussed and some further practical advice given. Individual assessment of the ability to drive remains indispensable