Eric Schmedding

Mutations in SACS cause atypical and late-onset forms of ARSACS

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. Objective: To provide more insight into the prevalence of SACS mutations and the variability of the associated phenotype. Methods: Mutation screening of SACS by direct sequencing and multiplex amplicon quantification for detection of intragenic copy number variations in a cohort of 85 index patients with phenotypes suggestive for ARSACS. Additional short tandem repeat (STR) marker analysis was performed for haplotype sharing. Results: In 11 families,18 new SACS mutations were found (12.9% of total cohort). Five patients displayed onset ages in adulthood, a feature not known to be associated with ARSACS. The remaining index patients displayed a classic early onset phenotype. Initial phenotypic presentation was atypical in several patients, obscuring the clinical diagnosis. A founder mutation in SACS was identified in 3 Belgian families. In one isolated patient, an intragenic SACS deletion of exons 3–5 was detected. Partial SACS deletions were not previously described. Conclusions: In this study, we enlarge the ARSACS phenotype and the underlying genetic spectrum of SACS mutations. Patients with ARSACS are more common than previously known and risk underdiagnosis due to late onset age and unusual presentation.

Ropivacaine 3.75 mg/mL, 5 mg/mL, or 7.5 mg/mL for Cervical Plexus Block During Carotid Endarterectomy

Objective To examine the effect of 225 mg (7.5 mg/mL), 150 mg (5 mg/mL), and 112.5 mg (3.75 mg/mL) ropivacaine on quality of cervical plexus block during carotid endarterectomy. Methods Patients (n = 93) scheduled for carotid endarterectomy were randomized to receive a cervical plexus block with deep infiltration of 10 mL and superficial infiltration of 20-mL volumes of ropivacaine 7.5, 5.0, or 3.75 mg/mL. Pain, coughing, hemodynamic consequences of the block, postoperative visual analog scores, and pain satisfaction index were recorded. If necessary, anesthesia supplements with aliquots of 3 mL lidocaine 1% were given during surgery. Results Incidences of coughing and hoarseness were similar in all groups. More local anesthetic infiltrations were required in the ropivacaine 3.75-mg/mL and 5-mg/mL groups. Postoperatively, no intragroup differences were observed. A trend toward better pain satisfaction was observed in the ropivacaine 7.5-mg/mL group. Conclusion The best quality of cervical plexus block associated with the smallest incidence of pain for patients undergoing carotid endarterectomy was obtained with 30 mL of 225 mg and 150 mg of ropivacaine, respectively.

Opinion of Belgian neurologists on antiepileptic drugs: Belgian Study on Epilepsy Treatment (BESET).

Objectives –  To describe the choice of treatment in adult patients with epilepsy in Belgium, to detect the presence or absence of consensus among neurologists in epilepsy treatment, and to analyze the gaps between current guidelines and prescriptions.

Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation

We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.

Opinion of Belgian neurologists on antiepileptic drug treatment in 2006: Belgian study on epilepsy treatment (BESET-2)

Objectives –  (i) To describe the medical treatment of epilepsy in Belgium in 2006, (ii) to detect the presence or absence of consensus in epilepsy treatment and (iii) to analyze the evolution of the neurologists’ opinion between 2003 and 2006.

Fatigue as the presenting symptom of chronic inflammatory demyelinating polyneuropathy

Different clinical presentations of chronic inflammatory demyelinating polyneuropathy (CIDP) have been described. Fatigue is generally considered to be a secondary sign and is not mentioned as a warning sign for the diagnosis. We present a patient with CIDP in whom fatigue remained the only symptom, hereby stressing the importance of adding this disease to the differential diagnosis of fatigue. Immunomodulatory treatment did not change the clinical course of the patient, but electrodiagnostic features improved substantially. Muscle Nerve, 2008

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-line 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-line 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.

Laing early-onset distal myopathy in a Belgian family

We report the first Belgian family with Laing early-onset distal myopathy (MPD1). The proposita started limping at age 7. Later, there was severe weakness of proximal and distal muscles, including neck flexors. Her daughter developed foot drop at age 4. Progressive weakness of distal limb extensor muscles and mild weakness of the neck flexor and proximal muscles were noted. In both patients, CK and nerve conductions were normal, but EMG showed a brief, small amplitude, abundant, polyphasic potential pattern. Heart and respiration were normal. Several muscle biopsies have been performed in each with various diagnoses, including aspecific myopathic changes, congenital fibre type disproportion, and denervation–reinnervation. Analysis of MYH7 revealed a c.4522_4524del mutation (p.Glu1508del). This appears to be a de novo mutation, which has been reported in French, Norwegian, and Finnish patients.

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.