Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism
Identifieur interne : 002E29 ( Main/Exploration ); précédent : 002E28; suivant : 002E30Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism
Auteurs : Eng-King Tan [Singapour] ; Justina Tong [Singapour] ; Ratnagopal Pavanni [Singapour] ; Meng-Cheong Wong [Singapour] ; Yi Zhao [Singapour]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-10-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (therapeutic use), Cross-Sectional Studies, DNA Mutational Analysis, Diagnosis, Differential, Drug Resistance, Essential Tremor (diagnosis), Essential Tremor (genetics), Female, Genetic Testing, Genotype, Humans, Levodopa (therapeutic use), Male, Middle Aged, Motor Skills Disorders (diagnosis), Motor Skills Disorders (genetics), Multiple System Atrophy (diagnosis), Multiple System Atrophy (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Neurologic Examination, Nuclear Proteins (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Polymerase Chain Reaction, Repressor Proteins (genetics), SCA2, SCA3, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Tremor, Trinucleotide Repeat Expansion (genetics), Trinucleotide Repeats, essential tremor.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Essential Tremor, Motor Skills Disorders, Multiple System Atrophy, Parkinsonian Disorders, Spinocerebellar Ataxias, Supranuclear Palsy, Progressive.
- drug therapy : Parkinsonian Disorders.
- genetics : Essential Tremor, Motor Skills Disorders, Multiple System Atrophy, Parkinsonian Disorders, Spinocerebellar Ataxias, Supranuclear Palsy, Progressive, Trinucleotide Repeat Expansion.
- Adult, Cross-Sectional Studies, DNA Mutational Analysis, Diagnosis, Differential, Drug Resistance, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Neurologic Examination, Phenotype, Polymerase Chain Reaction, Trinucleotide Repeats.
Abstract
Anecdotal reports suggest that patients with spinocerebellar ataxia (SCA 2) patients can present with postural tremor with ataxia. We determined the prevalence of SCA2 and SCA3 mutations in a cohort of ET and atypical Parkinsonism patients. A total of 277 subjects comprising of 177 ET and 100 atypical Parkinsonism were examined. We identified one positive case of SCA3 among those who were diagnosed with ET, yielding a prevalence of 0.5%, but a zero prevalence among our atypical Parkinsonism patients. No study subjects carried an abnormal SCA2 repeat expansion. Our study highlights that SCA3 can present initially with ET symptoms, expanding the spectrum of genetic diseases that can be associated with ET‐like phenotype. Routine screening for SCA2 and SCA3 in ET and atypical Parkinsonism patients may not be cost effective. However, in the long‐term follow‐up of patients who present with an ET phenotype, clinicians should be vigilant for other neurological signs, which may be point to an alternate diagnosis. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21699
Affiliations:
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10-15">2007-10-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="1971">1971</biblScope><biblScope unit="page" to="1974">1974</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E932F10548A60C9EEA5789F8B0273986E8F77535</idno><idno type="DOI">10.1002/mds.21699</idno><idno type="ArticleID">MDS21699</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (therapeutic use)</term><term>Cross-Sectional Studies</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Drug Resistance</term><term>Essential Tremor (diagnosis)</term><term>Essential Tremor (genetics)</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Middle Aged</term><term>Motor Skills Disorders (diagnosis)</term><term>Motor Skills Disorders (genetics)</term><term>Multiple System Atrophy (diagnosis)</term><term>Multiple System Atrophy (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Nuclear Proteins (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Repressor Proteins (genetics)</term><term>SCA2</term><term>SCA3</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Tremor</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Trinucleotide Repeats</term><term>essential tremor</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></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term><term>Motor Skills Disorders</term><term>Multiple System Atrophy</term><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Motor Skills Disorders</term><term>Multiple System Atrophy</term><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term><term>Supranuclear Palsy, Progressive</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cross-Sectional Studies</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Drug Resistance</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Tremblement</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">Anecdotal reports suggest that patients with spinocerebellar ataxia (SCA 2) patients can present with postural tremor with ataxia. We determined the prevalence of SCA2 and SCA3 mutations in a cohort of ET and atypical Parkinsonism patients. A total of 277 subjects comprising of 177 ET and 100 atypical Parkinsonism were examined. We identified one positive case of SCA3 among those who were diagnosed with ET, yielding a prevalence of 0.5%, but a zero prevalence among our atypical Parkinsonism patients. No study subjects carried an abnormal SCA2 repeat expansion. Our study highlights that SCA3 can present initially with ET symptoms, expanding the spectrum of genetic diseases that can be associated with ET‐like phenotype. Routine screening for SCA2 and SCA3 in ET and atypical Parkinsonism patients may not be cost effective. However, in the long‐term follow‐up of patients who present with an ET phenotype, clinicians should be vigilant for other neurological signs, which may be point to an alternate diagnosis. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Singapour</li></country></list><tree><country name="Singapour"><noRegion><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name></noRegion><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><name sortKey="Tong, Justina" sort="Tong, Justina" uniqKey="Tong J" first="Justina" last="Tong">Justina Tong</name><name sortKey="Wong, Meng Heong" sort="Wong, Meng Heong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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