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Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In(More)
Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited peripheral neuropathies. The most prevalent mutations are a reciprocal 1.5-Mb duplication and 1.5-Mb deletion, respectively, at the CMT1A/HNPP locus on chromosome 17p11.2. Point mutations in the coding region of the myelin genes,(More)
BACKGROUND Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in stiff-man syndrome (SMS) and insulin-dependent diabetes mellitus (IDDM). GAD autoantibodies (GAD-Abs) are reported in a few patients with cerebellar ataxia, but their relevance is unclear. We describe three patients with cerebellar ataxia and GAD-Abs. METHODS(More)
BACKGROUND Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene. OBJECTIVE To screen patients with mitochondrial disease and(More)
We diagnosed idiopathic granulomatous angiitis of the central nervous system in a 51-year-old man by leptomeningeal and cortical biopsy. The patient's disease was prolonged, with symptoms recurring over a period of 15 years. Treatment with prednisone and cyclophosphamide produced total remission after a follow-up of 22 months. Computerized tomography was(More)
Transcranial magnetic stimulation (TMS) was used to measure intensity threshold, conduction of the central motor pathways (CMCT) and amplitude of the motor evoked potentials (MEPs) in 50 patients with definite form of multiple sclerosis (MS), 31 females and 19 males, aged 15 to 58 years (mean 31.9 +/- 9.8). Abnormalities in at least one parameter after TMS(More)
This study looks at disease diversity, location of lesions, and progression of neuralgic amyotrophy (NA). Forty patients (28 male and 12 female, age range 15 to 70 years) were clinically examined. Muscle atrophy, weakness, and sensory impairment were assessed. Needle EMG and conduction velocities were performed. Careful clinical, electrophysiological,(More)
BACKGROUND Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry. METHODS Within the European Friedreich's Ataxia Consortium for Translational Studies(More)
IMPORTANCE Little is known of glutamic acid decarboxylase antibodies (GAD-abs) in the paraneoplastic context. Clinical recognition of such cases will lead to prompt tumor diagnosis and appropriate treatment. OBJECTIVE To report the clinical and immunological features of patients with paraneoplastic neurological syndromes (PNS) and GAD-abs. DESIGN,(More)
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene. We have found 26 different mutations in CLCN1 gene, including 13 not reported(More)