SCA2 may present as levodopa-responsive parkinsonism.
Identifieur interne : 000A41 ( Ncbi/Merge ); précédent : 000A40; suivant : 000A42SCA2 may present as levodopa-responsive parkinsonism.
Auteurs : Haydeh Payami [États-Unis] ; John Nutt ; Steven Gancher ; Thomas Bird ; Melissa Gonzales Mcneal ; William K. Seltzer ; Jennifer Hussey ; Paul Lockhart ; Katrina Gwinn-Hardy ; Amanda A. Singleton ; Andrew B. Singleton ; John Hardy ; Matthew FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2003.
English descriptors
- KwdEn :
- Adult, Aged, Alleles, Anticipation, Genetic (genetics), Antiparkinson Agents (adverse effects), Antiparkinson Agents (therapeutic use), DNA Mutational Analysis, Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Levodopa (adverse effects), Levodopa (therapeutic use), Male, Middle Aged, Nerve Tissue Proteins, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Pedigree, Phenotype, Proteins (genetics), Treatment Outcome, Trinucleotide Repeats.
- MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- diagnosis : Parkinson Disease, Parkinsonian Disorders.
- drug therapy : Parkinson Disease, Parkinsonian Disorders.
- genetics : Anticipation, Genetic, Genetic Predisposition to Disease, Parkinson Disease, Parkinsonian Disorders, Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- Adult, Aged, Alleles, DNA Mutational Analysis, Female, Genotype, Humans, Male, Middle Aged, Nerve Tissue Proteins, Neurologic Examination, Pedigree, Phenotype, Treatment Outcome, Trinucleotide Repeats.
Abstract
Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.
DOI: 10.1002/mds.10375
PubMed: 12671950
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Seltzer</name></author><author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name></author><author><name sortKey="Lockhart, Paul" sort="Lockhart, Paul" uniqKey="Lockhart P" first="Paul" last="Lockhart">Paul Lockhart</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Singleton, Amanda A" sort="Singleton, Amanda A" uniqKey="Singleton A" first="Amanda A" last="Singleton">Amanda A. Singleton</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. 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Seltzer</name></author><author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name></author><author><name sortKey="Lockhart, Paul" sort="Lockhart, Paul" uniqKey="Lockhart P" first="Paul" last="Lockhart">Paul Lockhart</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Singleton, Amanda A" sort="Singleton, Amanda A" uniqKey="Singleton A" first="Amanda A" last="Singleton">Amanda A. Singleton</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</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="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Alleles</term><term>Anticipation, Genetic (genetics)</term><term>Antiparkinson Agents (adverse effects)</term><term>Antiparkinson Agents (therapeutic use)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Levodopa (adverse effects)</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins</term><term>Neurologic Examination</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (drug therapy)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Proteins (genetics)</term><term>Treatment Outcome</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anticipation, Genetic</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Treatment Outcome</term><term>Trinucleotide Repeats</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.</div> </front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12671950</PMID><DateCreated><Year>2003</Year><Month>04</Month><Day>02</Day></DateCreated><DateCompleted><Year>2003</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>18</Volume><Issue>4</Issue><PubDate><Year>2003</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>SCA2 may present as levodopa-responsive parkinsonism.</ArticleTitle><Pagination><MedlinePgn>425-9</MedlinePgn></Pagination><Abstract><AbstractText>Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.</AbstractText> <CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Payami</LastName><ForeName>Haydeh</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA. hpayami@wadsorth.org</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nutt</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Gancher</LastName><ForeName>Steven</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Bird</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>McNeal</LastName><ForeName>Melissa Gonzales</ForeName><Initials>MG</Initials></Author><Author ValidYN="Y"><LastName>Seltzer</LastName><ForeName>William K</ForeName><Initials>WK</Initials></Author><Author ValidYN="Y"><LastName>Hussey</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Lockhart</LastName><ForeName>Paul</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Gwinn-Hardy</LastName><ForeName>Katrina</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Amanda A</ForeName><Initials>AA</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>5M01 RR00334</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>AG0817</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS40256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS36960</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011506">Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C102158">SCA2 protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020132">Anticipation, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000978">Antiparkinson Agents</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000009">adverse effects</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000009">adverse effects</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011506">Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016896">Treatment Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>4</Month><Day>3</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>7</Month><Day>29</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>4</Month><Day>3</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12671950</ArticleId><ArticleId IdType="doi">10.1002/mds.10375</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Oregon</li></region></list><tree><noCountry><name sortKey="Bird, Thomas" sort="Bird, Thomas" uniqKey="Bird T" first="Thomas" last="Bird">Thomas Bird</name><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Gancher, Steven" sort="Gancher, Steven" uniqKey="Gancher S" first="Steven" last="Gancher">Steven Gancher</name><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name><name sortKey="Lockhart, Paul" sort="Lockhart, Paul" uniqKey="Lockhart P" first="Paul" last="Lockhart">Paul Lockhart</name><name sortKey="Mcneal, Melissa Gonzales" sort="Mcneal, Melissa Gonzales" uniqKey="Mcneal M" first="Melissa Gonzales" last="Mcneal">Melissa Gonzales Mcneal</name><name sortKey="Nutt, John" sort="Nutt, John" uniqKey="Nutt J" first="John" last="Nutt">John Nutt</name><name sortKey="Seltzer, William K" sort="Seltzer, William K" uniqKey="Seltzer W" first="William K" last="Seltzer">William K. Seltzer</name><name sortKey="Singleton, Amanda A" sort="Singleton, Amanda A" uniqKey="Singleton A" first="Amanda A" last="Singleton">Amanda A. Singleton</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></noCountry><country name="États-Unis"><region name="Oregon"><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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