MovDisordV3, PascalFrancis, Corpus, bibRecord, 001498

Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism

Identifieur interne : 001498 ( PascalFrancis/Corpus ); précédent : 001497; suivant : 001499

Genetic 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 ZHAO

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0015803

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Tremblement, Parkinsonisme, Ataxie spinocérébelleuse.

English descriptors

KwdEn :
- Nervous system diseases, Parkinsonism, Spinocerebellar ataxia, Tremor.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism`
A11	`01`	`1`		`@1 TAN (Eng-King)`
A11	`02`	`1`		`@1 TONG (Justina)`
A11	`03`	`1`		`@1 PAVANNI (Ratnagopal)`
A11	`04`	`1`		`@1 WONG (Meng-Cheong)`
A11	`05`	`1`		`@1 YI ZHAO`
A14	`01`			`@1 Department of Neurology, Singapore General Hospital @3 SGP @Z 1 aut. @Z 3 aut. @Z 4 aut.`
A14	`02`			`@1 National Neuroscience Institute @3 SGP @Z 1 aut.`
A14	`03`			`@1 Department of Clinical Research, Singapore General Hospital @3 SGP @Z 2 aut. @Z 5 aut.`
A20				`@1 1971-1974`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000173554140220`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 14 ref.`
A47	`01`	`1`		`@0 08-0015803`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 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.
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C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 40`
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C07	`04`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 42`
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Format Inist (serveur)

NO :	PASCAL 08-0015803 INIST
ET :	Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism
AU :	TAN (Eng-King); TONG (Justina); PAVANNI (Ratnagopal); WONG (Meng-Cheong); YI ZHAO
AF :	Department of Neurology, Singapore General Hospital/Singapour (1 aut., 3 aut., 4 aut.); National Neuroscience Institute/Singapour (1 aut.); Department of Clinical Research, Singapore General Hospital/Singapour (2 aut., 5 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 13; Pp. 1971-1974; Bibl. 14 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17A01
FD :	Pathologie du système nerveux; Tremblement; Parkinsonisme; Ataxie spinocérébelleuse
FG :	Mouvement involontaire; Trouble neurologique; Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central
ED :	Nervous system diseases; Tremor; Parkinsonism; Spinocerebellar ataxia
EG :	Involuntary movement; Neurological disorder; Degenerative disease; Genetic disease; Central nervous system disease
SD :	Sistema nervioso patología; Temblor; Parkinson síndrome; Ataxia spinocerebelosa
LO :	INIST-20953.354000173554140220
ID :	08-0015803

Links to Exploration step

Pascal:08-0015803

Le document en format XML

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<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>
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<ET>Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism</ET>
<AU>TAN (Eng-King); TONG (Justina); PAVANNI (Ratnagopal); WONG (Meng-Cheong); YI ZHAO</AU>
<AF>Department of Neurology, Singapore General Hospital/Singapour (1 aut., 3 aut., 4 aut.); National Neuroscience Institute/Singapour (1 aut.); Department of Clinical Research, Singapore General Hospital/Singapour (2 aut., 5 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 13; Pp. 1971-1974; Bibl. 14 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17A01</CC>
<FD>Pathologie du   système nerveux; Tremblement; Parkinsonisme; Ataxie spinocérébelleuse</FD>
<FG>Mouvement involontaire; Trouble neurologique; Maladie dégénérative; Maladie héréditaire; Pathologie du   système nerveux central</FG>
<ED>Nervous system diseases; Tremor; Parkinsonism; Spinocerebellar ataxia</ED>
<EG>Involuntary movement; Neurological disorder; Degenerative disease; Genetic disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Temblor; Parkinson síndrome; Ataxia spinocerebelosa</SD>
<LO>INIST-20953.354000173554140220</LO>
<ID>08-0015803</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism

Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical parkinsonism

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