MovDisordV3, Main, Exploration, bibRecord, 003F49

SCA2 may present as levodopa‐responsive parkinsonism

Identifieur interne : 003F49 ( Main/Exploration ); précédent : 003F48; suivant : 003F50

SCA2 may present as levodopa‐responsive parkinsonism

Auteurs : Haydeh Payami [États-Unis] ; John Nutt [États-Unis] ; Steven Gancher [États-Unis] ; Thomas Bird [États-Unis] ; Melissa Gonzales Mcneal [États-Unis] ; William K. Seltzer [États-Unis] ; Jennifer Hussey [États-Unis] ; Paul Lockhart [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Amanda A. Singleton [États-Unis] ; Andrew B. Singleton [États-Unis] ; John Hardy [États-Unis] ; Matthew Farrer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2003-04.

RBID : ISTEX:9C1A061330B617800E35AC461B070C8C9C13C47A

Descripteurs français

Pascal (Inist)
- Dépistage, Gène SCA2, Homme, Hérédodégénérescence spinocérébelleuse, Lévodopa, Mutation, Parkinson maladie.
Wicri :
- topic : Homme.

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, Human, Humans, Levodopa, Levodopa (adverse effects), Levodopa (therapeutic use), Male, Medical screening, Middle Aged, Mutation, Nerve Tissue Proteins, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson disease, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Pedigree, Phenotype, Proteins (genetics), SCA2 mutation, Spinocerebellar heredodegeneration, Treatment Outcome, Trinucleotide Repeats, levodopa, parkinsonism.
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. (≤31 repeats is normal, 32–35 is borderline, ≥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. © 2002 Movement Disorder Society

Url:

https://api.istex.fr/document/9C1A061330B617800E35AC461B070C8C9C13C47A/fulltext/pdf

DOI: 10.1002/mds.10375

Affiliations:

Le document en format XML

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<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>Human</term>
<term>Humans</term>
<term>Levodopa</term>
<term>Levodopa (adverse effects)</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Medical screening</term>
<term>Middle Aged</term>
<term>Mutation</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>Parkinson disease</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>SCA2 mutation</term>
<term>Spinocerebellar heredodegeneration</term>
<term>Treatment Outcome</term>
<term>Trinucleotide Repeats</term>
<term>levodopa</term>
<term>parkinsonism</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Dépistage</term>
<term>Gène SCA2</term>
<term>Homme</term>
<term>Hérédodégénérescence spinocérébelleuse</term>
<term>Lévodopa</term>
<term>Mutation</term>
<term>Parkinson maladie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
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<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. (≤31 repeats is normal, 32–35 is borderline, ≥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. © 2002 Movement Disorder Society</div>
</front>
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<li>Massachusetts</li>
<li>Oregon</li>
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<li>État de New York</li>
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<tree><country name="États-Unis"><region name="Oregon"><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name>
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<name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy 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="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>
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<name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</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>
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<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
</country>
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Movement Disorders (revue)

SCA2 may present as levodopa‐responsive parkinsonism

SCA2 may present as levodopa‐responsive parkinsonism

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English descriptors

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	Movement Disorders (revue)
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