MovDisordV3, Main, Exploration, bibRecord, 003180

Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3

Identifieur interne : 003180 ( Main/Exploration ); précédent : 003179; suivant : 003181

Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3

Auteurs : José Berciano [Espagne] ; Jon Infante [Espagne] ; Antonio García [Espagne] ; Carmen De Pablos [Espagne] ; Guillermo Amer [Espagne] ; José Miguel Polo [Espagne] ; Victor Volpini [Espagne] ; Onofre Combarros [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-07.

RBID : ISTEX:51681A64CEFF3A704323A1946770C9811385209A

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Homme raide syndrome, Joseph maladie, Myoclonie, Myokymie, Oscillopsie, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Aged, Alleles, Atrophy, Brain Stem (pathology), Cerebellum (pathology), Diagnosis, Differential, Disease Progression, Female, Humans, Joseph disease, Machado-Joseph Disease (diagnosis), Machado-Joseph Disease (genetics), Machado–Joseph disease, Magnetic Resonance Imaging, Male, Middle Aged, Myoclonus, Myokymia, Myokymia (diagnosis), Myokymia (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Neurologic Examination, Nuclear Proteins (genetics), Ophthalmoplegia (diagnosis), Ophthalmoplegia (genetics), Oscillopsia, Pedigree, Phenotype, Repressor Proteins (genetics), Spinocerebellar ataxia, Stiff man syndrome, Stiff-Person Syndrome (diagnosis), Stiff-Person Syndrome (genetics), Tomography, X-Ray Computed, dysautonomia, facial action myoclonus, myokymia, spinocerebellar ataxia type 3, stiff man syndrome.
MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins.
- diagnosis : Machado-Joseph Disease, Myokymia, Ophthalmoplegia, Stiff-Person Syndrome.
- genetics : Machado-Joseph Disease, Myokymia, Ophthalmoplegia, Stiff-Person Syndrome.
- pathology : Brain Stem, Cerebellum.
- Adult, Aged, Alleles, Atrophy, Diagnosis, Differential, Disease Progression, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Tomography, X-Ray Computed.

Abstract

We describe the novel association of spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) phenotype combining classical clinical presentation and semeiology mimicking stiff man syndrome (SMS). The studied pedigree comprises seven affected members in three generations. Their clinical picture consisted of cerebellar ataxia, pyramidal signs, facial myokymia, and ophthalmoplegia. The proband was a 39‐year‐old man in whom such a clinical picture, 5 years after onset at age 29, evolved to severe SMS and widespread myokymia. Electrophysiological study revealed continuous muscle activity in proximal limb muscles. Molecular study demonstrated the MJD gene mutation in all four examined patients with 73 to 76 CAG repeats in the expanded allele. We conclude that an excess of motor unit activity including stiff man–like syndrome and widespread myokymia may be an integral part of the SCA3 clinical spectrum. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/51681A64CEFF3A704323A1946770C9811385209A/fulltext/pdf

DOI: 10.1002/mds.20865

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">We describe the novel association of spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) phenotype combining classical clinical presentation and semeiology mimicking stiff man syndrome (SMS). The studied pedigree comprises seven affected members in three generations. Their clinical picture consisted of cerebellar ataxia, pyramidal signs, facial myokymia, and ophthalmoplegia. The proband was a 39‐year‐old man in whom such a clinical picture, 5 years after onset at age 29, evolved to severe SMS and widespread myokymia. Electrophysiological study revealed continuous muscle activity in proximal limb muscles. Molecular study demonstrated the MJD gene mutation in all four examined patients with 73 to 76 CAG repeats in the expanded allele. We conclude that an excess of motor unit activity including stiff man–like syndrome and widespread myokymia may be an integral part of the SCA3 clinical spectrum. © 2006 Movement Disorder Society</div>
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Movement Disorders (revue)

Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3

Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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