Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation
Identifieur interne : 002D32 ( Main/Exploration ); précédent : 002D31; suivant : 002D33Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation
Auteurs : Melissa J. Nirenberg [États-Unis] ; Jenny Libien [États-Unis] ; Jean-Paul Vonsattel [États-Unis] ; Stanley Fahn [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Alleles, Autopsy, Cerebellum (metabolism), Cerebellum (pathology), DNA Repeat Expansion (genetics), Fatal Outcome, Female, Human, Humans, Inclusion, Inclusion Bodies (metabolism), Inclusion Bodies (pathology), Machado‐Joseph, Middle Aged, Multiple System Atrophy (complications), Multiple system atrophy, Mutation, Myelin Sheath (pathology), Nerve Degeneration (pathology), Nerve Tissue Proteins (genetics), Nervous system diseases, Neuroglia (metabolism), Neuroglia (pathology), Nuclear Proteins (genetics), Olivopontocerebellar, Point Mutation (genetics), Putamen (metabolism), Putamen (pathology), Repressor Proteins (genetics), Severity of Illness Index, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, alpha-Synuclein (genetics), glial cytoplasmic inclusion, multiple system atrophy, olivopontocerebellar atrophy, spinocerebellar ataxia.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins, alpha-Synuclein.
- complications : Multiple System Atrophy, Spinocerebellar Ataxias.
- genetics : DNA Repeat Expansion, Point Mutation, Spinocerebellar Ataxias.
- metabolism : Cerebellum, Inclusion Bodies, Neuroglia, Putamen.
- pathology : Cerebellum, Inclusion Bodies, Myelin Sheath, Nerve Degeneration, Neuroglia, Putamen.
- Alleles, Autopsy, Fatal Outcome, Female, Humans, Middle Aged, Severity of Illness Index.
Abstract
The cerebellar variant of multiple system atrophy (MSA‐C) has overlapping clinical features with the hereditary spinocerebellar ataxias (SCAs), but can usually be distinguished on a clinical basis. We describe a patient who developed a sporadic, late‐onset, rapidly progressive neurodegenerative disorder consistent with MSA‐C. Genetic testing, however, showed an abnormal expansion of one allele of the spinocerebellar ataxia 3 (SCA3) gene. The clinical impression of MSA‐C was confirmed by identification of numerous α‐synuclein–containing glial cytoplasmic inclusions on autopsy. These findings suggest that abnormal expansion of the SCA3 gene may be a risk factor for the development of MSA‐C. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21231
Affiliations:
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Le document en format XML
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<term>Autopsy</term>
<term>Cerebellum (metabolism)</term>
<term>Cerebellum (pathology)</term>
<term>DNA Repeat Expansion (genetics)</term>
<term>Fatal Outcome</term>
<term>Female</term>
<term>Human</term>
<term>Humans</term>
<term>Inclusion</term>
<term>Inclusion Bodies (metabolism)</term>
<term>Inclusion Bodies (pathology)</term>
<term>Machado‐Joseph</term>
<term>Middle Aged</term>
<term>Multiple System Atrophy (complications)</term>
<term>Multiple system atrophy</term>
<term>Mutation</term>
<term>Myelin Sheath (pathology)</term>
<term>Nerve Degeneration (pathology)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nervous system diseases</term>
<term>Neuroglia (metabolism)</term>
<term>Neuroglia (pathology)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Olivopontocerebellar</term>
<term>Point Mutation (genetics)</term>
<term>Putamen (metabolism)</term>
<term>Putamen (pathology)</term>
<term>Repressor Proteins (genetics)</term>
<term>Severity of Illness Index</term>
<term>Spinocerebellar Ataxias (complications)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>alpha-Synuclein (genetics)</term>
<term>glial cytoplasmic inclusion</term>
<term>multiple system atrophy</term>
<term>olivopontocerebellar atrophy</term>
<term>spinocerebellar ataxia</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term>
<term>Nuclear Proteins</term>
<term>Repressor Proteins</term>
<term>alpha-Synuclein</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Multiple System Atrophy</term>
<term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Repeat Expansion</term>
<term>Point Mutation</term>
<term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cerebellum</term>
<term>Inclusion Bodies</term>
<term>Neuroglia</term>
<term>Putamen</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
<term>Inclusion Bodies</term>
<term>Myelin Sheath</term>
<term>Nerve Degeneration</term>
<term>Neuroglia</term>
<term>Putamen</term>
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<term>Autopsy</term>
<term>Fatal Outcome</term>
<term>Female</term>
<term>Humans</term>
<term>Middle Aged</term>
<term>Severity of Illness Index</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term>
<term>Atrophie multisystématisée</term>
<term>Homme</term>
<term>Inclusion</term>
<term>Mutation</term>
<term>Olivopontocérébelleux</term>
<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">The cerebellar variant of multiple system atrophy (MSA‐C) has overlapping clinical features with the hereditary spinocerebellar ataxias (SCAs), but can usually be distinguished on a clinical basis. We describe a patient who developed a sporadic, late‐onset, rapidly progressive neurodegenerative disorder consistent with MSA‐C. Genetic testing, however, showed an abnormal expansion of one allele of the spinocerebellar ataxia 3 (SCA3) gene. The clinical impression of MSA‐C was confirmed by identification of numerous α‐synuclein–containing glial cytoplasmic inclusions on autopsy. These findings suggest that abnormal expansion of the SCA3 gene may be a risk factor for the development of MSA‐C. © 2006 Movement Disorder Society</div>
</front>
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<name sortKey="Vonsattel, Jean Aul" sort="Vonsattel, Jean Aul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
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