Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism.
Identifieur interne : 001E15 ( Ncbi/Checkpoint ); précédent : 001E14; suivant : 001E16Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism.
Auteurs : Eng-King Tan [Singapour] ; Justina Tong ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Yi ZhaoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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), Neurologic Examination, Nuclear Proteins (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Phenotype, Polymerase Chain Reaction, Repressor Proteins (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Trinucleotide Repeat Expansion (genetics), Trinucleotide Repeats.
- 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.
DOI: 10.1002/mds.21699
PubMed: 17712857
Affiliations:
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Cheong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21699</idno><idno type="RBID">pubmed:17712857</idno><idno type="pmid">17712857</idno><idno type="wicri:Area/PubMed/Corpus">002544</idno><idno type="wicri:Area/PubMed/Curation">002544</idno><idno type="wicri:Area/PubMed/Checkpoint">002801</idno><idno type="wicri:Area/Ncbi/Merge">001E15</idno><idno type="wicri:Area/Ncbi/Curation">001E15</idno><idno type="wicri:Area/Ncbi/Checkpoint">001E15</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism.</title><author><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Singapore General Hospital, Singapore. gnrtek@sgh.com.sg</nlm:affiliation><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Neurology, Singapore General Hospital</wicri:regionArea><wicri:noRegion>Singapore General Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Tong, Justina" sort="Tong, Justina" uniqKey="Tong J" first="Justina" last="Tong">Justina Tong</name></author><author><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name></author><author><name sortKey="Wong, Meng Cheong" sort="Wong, Meng Cheong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</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>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>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>Phenotype</term><term>Polymerase Chain Reaction</term><term>Repressor Proteins (genetics)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Trinucleotide Repeats</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></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Singapour</li></country></list><tree><noCountry><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name><name sortKey="Tong, Justina" sort="Tong, Justina" uniqKey="Tong J" first="Justina" last="Tong">Justina Tong</name><name sortKey="Wong, Meng Cheong" sort="Wong, Meng Cheong" 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></noCountry><country name="Singapour"><noRegion><name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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