Atrophie bulbo-spinale liée à l'X: Une maladie rare mais un diagnostic différentiel fréquent de la sclérose latérale amyotrophique

Pierre François Pradat

doi:10.1016/j.lpm.2014.03.005

Atrophie bulbo-spinale liée à l'X: Une maladie rare mais un diagnostic différentiel fréquent de la sclérose latérale amyotrophique

Translated title of the contribution: SBMA: A rare disease but a classic ALS mimic syndrome

Pierre François Pradat

School of Biomedical Sciences

Research output: Contribution to journal › Short survey › peer-review

1 Citation (Scopus)

Abstract

Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder of lower motor neurons characterized by proximal limb muscular atrophy, bulbar involvement, marked fasciculation, hand tremor and gynaecomastia. SBMA is caused by a CAG-repeat expansion in the androgen receptor gene on the X-chromosome. Due to its mode of transmission, only male are symptomatic and clinical features appear progressively in adulthood. Motor signs and symptoms are restricted to lower motor neuron involvement, in contrast with amyotrophic lateral sclerosis (ALS) characterized by the association with upper motor neuron involvement. The diminution of sensory potential at electroneuromyogram is a major criteria discriminating between SBMA and ALS.Diagnostic confirmation is based on genetic testing.

Translated title of the contribution	SBMA: A rare disease but a classic ALS mimic syndrome
Original language	French
Pages (from-to)	580-586
Number of pages	7
Journal	Presse Medicale
Volume	43
Issue number	5
DOIs	https://doi.org/10.1016/j.lpm.2014.03.005
Publication status	Published (in print/issue) - 1 Jan 2014

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@article{e16cb0178a6545d8a20a048fbfae3573,

title = "Atrophie bulbo-spinale li{\'e}e {\`a} l'X: Une maladie rare mais un diagnostic diff{\'e}rentiel fr{\'e}quent de la scl{\'e}rose lat{\'e}rale amyotrophique",

abstract = "Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder of lower motor neurons characterized by proximal limb muscular atrophy, bulbar involvement, marked fasciculation, hand tremor and gynaecomastia. SBMA is caused by a CAG-repeat expansion in the androgen receptor gene on the X-chromosome. Due to its mode of transmission, only male are symptomatic and clinical features appear progressively in adulthood. Motor signs and symptoms are restricted to lower motor neuron involvement, in contrast with amyotrophic lateral sclerosis (ALS) characterized by the association with upper motor neuron involvement. The diminution of sensory potential at electroneuromyogram is a major criteria discriminating between SBMA and ALS.Diagnostic confirmation is based on genetic testing.",

author = "Pradat, {Pierre Fran{\c c}ois}",

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T2 - Une maladie rare mais un diagnostic différentiel fréquent de la sclérose latérale amyotrophique

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PY - 2014/1/1

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N2 - Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder of lower motor neurons characterized by proximal limb muscular atrophy, bulbar involvement, marked fasciculation, hand tremor and gynaecomastia. SBMA is caused by a CAG-repeat expansion in the androgen receptor gene on the X-chromosome. Due to its mode of transmission, only male are symptomatic and clinical features appear progressively in adulthood. Motor signs and symptoms are restricted to lower motor neuron involvement, in contrast with amyotrophic lateral sclerosis (ALS) characterized by the association with upper motor neuron involvement. The diminution of sensory potential at electroneuromyogram is a major criteria discriminating between SBMA and ALS.Diagnostic confirmation is based on genetic testing.

AB - Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder of lower motor neurons characterized by proximal limb muscular atrophy, bulbar involvement, marked fasciculation, hand tremor and gynaecomastia. SBMA is caused by a CAG-repeat expansion in the androgen receptor gene on the X-chromosome. Due to its mode of transmission, only male are symptomatic and clinical features appear progressively in adulthood. Motor signs and symptoms are restricted to lower motor neuron involvement, in contrast with amyotrophic lateral sclerosis (ALS) characterized by the association with upper motor neuron involvement. The diminution of sensory potential at electroneuromyogram is a major criteria discriminating between SBMA and ALS.Diagnostic confirmation is based on genetic testing.

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DO - 10.1016/j.lpm.2014.03.005

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SN - 0755-4982

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ER -

Atrophie bulbo-spinale liée à l'X: Une maladie rare mais un diagnostic différentiel fréquent de la sclérose latérale amyotrophique

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