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A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124(More)
BACKGROUND In order to reduce the risk of progressive multifocal leucoencephalopathy when using natalizumab for more than 12 months, a 6-month drug holiday has been discussed. However, the consequences on short term disease activity have been poorly assessed. OBJECTIVE The aim of this study was to assess clinical and radiological disease activity within 6(More)
The effect of fentanyl anaesthesia on the plasma antidiuretic hormone (ADH) response to osmotic stimulus was studied in eight patients. Eight g (137 mmol) NaCl were rapidly injected intravenously the day before anaesthesia and blood samples were collected 5, 10, 20 and 30 min after the injection. This protocol was repeated in the same subjects, under(More)
Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT 1a, and in the peripheral(More)
A 24-year-old man returning from a trip to Mali was hospitalized for acute encephalitis and fever in association with acute primary infection by Schistosomiasis mansoni. Bilharziasis was suspected from the epidemiological context and presence of eosinophilia. Diagnosis was confirmed by serological testing. Specific treatment using praziquantel and(More)