Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Nutan Sharma; Ramon A. Franco; John K. Kuster; Adele A. Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F. Brin; Andrew Blitzer; Susan B. Bressman; Laurie J. Ozelius

doi:10.1002/mds.23225

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Nutan Sharma, Ramon A. Franco, John K. Kuster, Adele A. Mitchell, Tania Fuchs, Rachel Saunders-Pullman, Deborah Raymond, Mitchell F. Brin, Andrew Blitzer, Susan B. Bressman, Laurie J. Ozelius

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

28 Scopus citations

Abstract

Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.

Original language	English
Pages (from-to)	2183-2187
Number of pages	5
Journal	Movement Disorders
Volume	25
Issue number	13
DOIs	https://doi.org/10.1002/mds.23225
State	Published - 15 Oct 2010
Externally published	Yes

Keywords

Focal dystonia
Segmental dystonia
Single nucleotide polymorphisms
TorsinA

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title = "Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia",

abstract = "Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.",

keywords = "Focal dystonia, Segmental dystonia, Single nucleotide polymorphisms, TorsinA",

author = "Nutan Sharma and Franco, {Ramon A.} and Kuster, {John K.} and Mitchell, {Adele A.} and Tania Fuchs and Rachel Saunders-Pullman and Deborah Raymond and Brin, {Mitchell F.} and Andrew Blitzer and Bressman, {Susan B.} and Ozelius, {Laurie J.}",

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TY - JOUR

T1 - Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

AU - Sharma, Nutan

AU - Franco, Ramon A.

AU - Kuster, John K.

AU - Mitchell, Adele A.

AU - Fuchs, Tania

AU - Saunders-Pullman, Rachel

AU - Raymond, Deborah

AU - Brin, Mitchell F.

AU - Blitzer, Andrew

AU - Bressman, Susan B.

AU - Ozelius, Laurie J.

PY - 2010/10/15

Y1 - 2010/10/15

N2 - Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.

AB - Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.

KW - Focal dystonia

KW - Segmental dystonia

KW - Single nucleotide polymorphisms

KW - TorsinA

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DO - 10.1002/mds.23225

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AN - SCOPUS:78649359143

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JO - Movement Disorders

JF - Movement Disorders

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ER -

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Abstract

Keywords

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