Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.
Identifieur interne : 002960 ( PubMed/Corpus ); précédent : 002959; suivant : 002961Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.
Auteurs : Melissa J. Nirenberg ; Jenny Libien ; Jean-Paul Vonsattel ; Stanley FahnSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Alleles, Autopsy, Cerebellum (metabolism), Cerebellum (pathology), DNA Repeat Expansion (genetics), Fatal Outcome, Female, Humans, Inclusion Bodies (metabolism), Inclusion Bodies (pathology), Middle Aged, Multiple System Atrophy (complications), Myelin Sheath (pathology), Nerve Degeneration (pathology), Nerve Tissue Proteins (genetics), Neuroglia (metabolism), Neuroglia (pathology), Nuclear Proteins (genetics), Point Mutation (genetics), Putamen (metabolism), Putamen (pathology), Repressor Proteins (genetics), Severity of Illness Index, Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (genetics), alpha-Synuclein (genetics).
- 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 alpha-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.
DOI: 10.1002/mds.21231
PubMed: 17133518
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pubmed:17133518Le document en format XML
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Nirenberg</name><affiliation><nlm:affiliation>Division of Movement Disorders, Department of Neurology, Weill Cornell Medical College, New York, New York 10021, USA. mjnirenb@med.cornell.edu</nlm:affiliation></affiliation></author><author><name sortKey="Libien, Jenny" sort="Libien, Jenny" uniqKey="Libien J" first="Jenny" last="Libien">Jenny Libien</name></author><author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21231</idno><idno type="RBID">pubmed:17133518</idno><idno type="pmid">17133518</idno><idno type="wicri:Area/PubMed/Corpus">002960</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation.</title><author><name sortKey="Nirenberg, Melissa J" sort="Nirenberg, Melissa J" uniqKey="Nirenberg M" first="Melissa J" last="Nirenberg">Melissa J. Nirenberg</name><affiliation><nlm:affiliation>Division of Movement Disorders, Department of Neurology, Weill Cornell Medical College, New York, New York 10021, USA. mjnirenb@med.cornell.edu</nlm:affiliation></affiliation></author><author><name sortKey="Libien, Jenny" sort="Libien, Jenny" uniqKey="Libien J" first="Jenny" last="Libien">Jenny Libien</name></author><author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><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>Humans</term><term>Inclusion Bodies (metabolism)</term><term>Inclusion Bodies (pathology)</term><term>Middle Aged</term><term>Multiple System Atrophy (complications)</term><term>Myelin Sheath (pathology)</term><term>Nerve Degeneration (pathology)</term><term>Nerve Tissue Proteins (genetics)</term><term>Neuroglia (metabolism)</term><term>Neuroglia (pathology)</term><term>Nuclear Proteins (genetics)</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>alpha-Synuclein (genetics)</term></keywords><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></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Multiple System Atrophy</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Repeat Expansion</term><term>Point Mutation</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cerebellum</term><term>Inclusion Bodies</term><term>Neuroglia</term><term>Putamen</term></keywords><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></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Autopsy</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><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 alpha-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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17133518</PMID><DateCreated><Year>2007</Year><Month>02</Month><Day>05</Day></DateCreated><DateCompleted><Year>2007</Year><Month>03</Month><Day>23</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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These findings suggest that abnormal expansion of the SCA3 gene may be a risk factor for the development of MSA-C.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nirenberg</LastName><ForeName>Melissa J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Division of Movement Disorders, Department of Neurology, Weill Cornell Medical College, New York, New York 10021, USA. mjnirenb@med.cornell.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Libien</LastName><ForeName>Jenny</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Vonsattel</LastName><ForeName>Jean-Paul</ForeName><Initials>JP</Initials></Author><Author ValidYN="Y"><LastName>Fahn</LastName><ForeName>Stanley</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case 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