A case of dysferlinopathy presenting choreic movements

Toshiaki Takahashi; Masashi Aoki; Takashi Imai; Masaru Yoshioka; Hedehiko Konno; Shuichi Higano; Yoshiaki Onodera; Hiroshi Saito; Itaru Kimura; Yasuto Itoyama

doi:10.1002/mds.21027

A case of dysferlinopathy presenting choreic movements

Toshiaki Takahashi, Masashi Aoki, Takashi Imai, Masaru Yoshioka, Hedehiko Konno, Shuichi Higano, Yoshiaki Onodera, Hiroshi Saito, Itaru Kimura, Yasuto Itoyama

MED - Medical Sciences

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

13 Citations (Scopus)

Abstract

Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.

Original language	English
Pages (from-to)	1513-1515
Number of pages	3
Journal	Movement Disorders
Volume	21
Issue number	9
DOIs	https://doi.org/10.1002/mds.21027
Publication status	Published - 2006 Sept

Keywords

Chorea
Dysferlin
Limb-girdle muscular dystrophy type 2B

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.21027

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title = "A case of dysferlinopathy presenting choreic movements",

abstract = "Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.",

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AU - Takahashi, Toshiaki

AU - Aoki, Masashi

AU - Imai, Takashi

AU - Yoshioka, Masaru

AU - Konno, Hedehiko

AU - Higano, Shuichi

AU - Onodera, Yoshiaki

AU - Saito, Hiroshi

AU - Kimura, Itaru

AU - Itoyama, Yasuto

PY - 2006/9

Y1 - 2006/9

N2 - Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.

AB - Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.

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KW - Dysferlin

KW - Limb-girdle muscular dystrophy type 2B

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A case of dysferlinopathy presenting choreic movements

Abstract

Keywords

ASJC Scopus subject areas

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