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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 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)
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)
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)
We compared the clinical, electrophysiological, laboratory, and pathological features of 13 patients with Lewis-Sumner syndrome (LSS) with those of 20 patients with multifocal motor neuropathy (MMN). LSS and MMN patients have several common clinical features: age at onset, weakness in the distribution of individual peripheral nerves, mild wasting, cramps(More)
Owing to the low sensitivity of clinical signs in assessing upper motor neuron (UMN) involvement in ALS, there is a need for investigative tools capable of detecting abnormal function of the pyramidal tract. Transcranial magnetic stimulation (TMS) may contribute to the diagnosis by reflecting a UMN dysfunction that is not clinically detectable. Several(More)
In this study we report three patients with facial-onset sensory and motor neuronopathy (FOSMN), including the first female to be described. A fourth rather atypical case of a pyramidal syndrome with a fast rate of progression is also described. These cases raise the question as to whether upper motor neuron impairment is involved in FOSMN and whether there(More)