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A case of dysferlinopathy presenting choreic movements
Author(s) -
Takahashi Toshiaki,
Aoki Masashi,
Imai Takashi,
Yoshioka Masaru,
Konno Hidehiko,
Higano Shuichi,
Onodera Yoshiaki,
Saito Hiroshi,
Kimura Itaru,
Itoyama Yasuto
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21027
Subject(s) - dysferlin , chorea , muscular dystrophy , limb girdle muscular dystrophy , medicine , mutation , genetics , biology , pathology , gene , disease
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. © 2006 Movement Disorder Society