Shahram Attarian

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We report the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a frameshift mutation (c.220insC) and a missense mutation (V790M). The muscle biopsy showed dramatic pre- and postsynaptic structural(More)
OBJECTIVE To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. DESIGN Clinical, biological, and pathological data from 40 patients were reviewed. The diagnosis of dysferlinopathy was based on the absence or strong(More)
OBJECTIVE To evaluate indexes calculated from standard electrophysiological data in differentiating chronic demyelinating polyneuropathy (CDP). METHODS Nerve conduction study of upper limbs was investigated in 19 chronic inflammatory demyelinating polyneuropathy (CIDP) patients, 25 anti-myelin-associated glycoprotein/sulfated glucuronyl paragloboside(More)
To study the relative importance of upper motor neuron (UMN) dysfunction in the weakness of amyotrophic lateral sclerosis (ALS) and to compare the sensitivity of several transcranial magnetic stimulation (TMS) parameters as means of assessing UMN impairment in ALS, we used TMS to evaluate one upper limb of 63 patients. The triple-stimulation technique (TST)(More)
OBJECTIVE To establish a normative database for isometric strength measured by quantitative muscle testing (QMT) for a French adult population. DESIGN Measurement of maximal voluntary isometric contraction. SETTING Four clinical centers involved in neuromuscular disorders. PARTICIPANTS A total of 315 healthy adults (147 men, 168 women) ages 20 to 80(More)
BACKGROUND Right phrenic nerve palsy (PNP) is the most frequent complication of cryoballoon ablation. Diaphragmatic electromyography can predict PNP with a comfortable safety margin. Our goal was to evaluate the feasibility, efficacy, and safety of electromyography-guided PN monitoring using a novel hepatic vein approach for prevention of PNP. METHODS AND(More)
OBJECTIVE The genetic variation underlying facioscapulohumeral muscular dystrophy (FSHD), 1 of the most common hereditary neuromuscular disorders, is complex, and associated with the contraction of a repeat array (D4Z4) at the subtelomeric end of chromosome 4q. Nonpathogenic variants of 4q and the presence of a homologous array on chromosome 10q make FSHD(More)
BACKGROUND The optimal dose of intravenous immunoglobulin (IVIG) in acute exacerbation of myasthenia gravis remains unknown. Increasing the treatment duration might provide added efficacy. OBJECTIVE To determine the optimal dose of IVIG for treating myasthenia gravis exacerbation. DESIGN Randomized double-blind placebo-controlled multicenter trial(More)
Respiratory muscle involvement is one of the main prognostic factors in amyotrophic lateral sclerosis (ALS). Acute respiratory failure is sometimes the first manifestation of the disease, although onset can be more insidious. In the present retrospective study, it was proposed to review the clinical features and to assess the effects of non-invasive(More)
OBJECTIVE To study the diagnostic value of transcranial magnetic stimulation (TMS) in a group of patients with lower motor neuron disease (LMND). Among LMND, several chronic immune mediate motor neuropathies may simulate amyotrophic lateral sclerosis (ALS). METHODS Forty patients with LMND were included TMS was performed at the first visit. The patients(More)