Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism
Identifieur interne : 002A74 ( Istex/Corpus ); précédent : 002A73; suivant : 002A75Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism
Auteurs : Eng-King Tan ; Justina Tong ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Yi ZhaoSource :
- Movement Disorders [ 0885-3185 ] ; 2007-10-15.
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- KwdEn :
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
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DOI: 10.1002/mds.21699
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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. 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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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Genetic Analysis of SCA 2 and 3 Repeat Expansions</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism</title></titleInfo><name type="personal"><namePart type="given">Eng‐King</namePart><namePart type="family">Tan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>National Neuroscience Institute, Singapore</affiliation><description>Correspondence: Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Justina</namePart><namePart type="family">Tong</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ratnagopal</namePart><namePart type="family">Pavanni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Meng‐Cheong</namePart><namePart type="family">Wong</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yi</namePart><namePart type="family">Zhao</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-10-15</dateIssued><dateCaptured encoding="w3cdtf">2007-05-03</dateCaptured><dateValid encoding="w3cdtf">2007-07-14</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="references">14</extent><extent unit="words">2067</extent></physicalDescription><abstract 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</abstract><note type="funding">National Medical Research Council</note><note type="funding">Department of Clinical Research, Singapore General Hospital</note><subject lang="en"><genre>Keywords</genre><topic>SCA2</topic><topic>SCA3</topic><topic>Parkinsonism</topic><topic>essential tremor</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. 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|clé= ISTEX:E932F10548A60C9EEA5789F8B0273986E8F77535
|texte= Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism
}}
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