Taiwanese cases of SCA2 are derived from a single founder

Parastoo Momeni; Chin-Song Lu; Yah-Huei Wu-Chou; Hsiu Chen Chang; Rou Shayn Chen; Chiung Chu Chen; Jin Tian Hsu; Andrew Singleton; John Hardy

doi:10.1002/mds.20638

Taiwanese cases of SCA2 are derived from a single founder

Parastoo Momeni^*, Chin-Song Lu, Yah-Huei Wu-Chou, Hsiu Chen Chang, Rou Shayn Chen, Chiung Chu Chen, Jin Tian Hsu, Andrew Singleton, John Hardy

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Article › peer-review

6 Scopus citations

Abstract

We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.

Original language	English
Pages (from-to)	1633-1636
Number of pages	4
Journal	Movement Disorders
Volume	20
Issue number	12
DOIs	https://doi.org/10.1002/mds.20638
State	Published - 12 2005

Keywords

Ataxic phenotype
Common founder
Haplotype
Parkinson
SCA2

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10.1002/mds.20638

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title = "Taiwanese cases of SCA2 are derived from a single founder",

abstract = "We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.",

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author = "Parastoo Momeni and Chin-Song Lu and Yah-Huei Wu-Chou and Chang, {Hsiu Chen} and Chen, {Rou Shayn} and Chen, {Chiung Chu} and Hsu, {Jin Tian} and Andrew Singleton and John Hardy",

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AU - Momeni, Parastoo

AU - Lu, Chin-Song

AU - Wu-Chou, Yah-Huei

AU - Chang, Hsiu Chen

AU - Chen, Rou Shayn

AU - Chen, Chiung Chu

AU - Hsu, Jin Tian

AU - Singleton, Andrew

AU - Hardy, John

PY - 2005/12

Y1 - 2005/12

N2 - We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.

AB - We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.

KW - Ataxic phenotype

KW - Common founder

KW - Haplotype

KW - Parkinson

KW - SCA2

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M3 - 文章

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SN - 0885-3185

VL - 20

SP - 1633

EP - 1636

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -

Taiwanese cases of SCA2 are derived from a single founder

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Keywords

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