A case of dysferlinopathy presenting choreic movements.
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.
Takahashi
Toshiaki
T
Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan.
Aoki
Masashi
M
Imai
Takashi
T
Yoshioka
Masaru
M
Konno
Hidehiko
H
Higano
Shuichi
S
Onodera
Yoshiaki
Y
Saito
Hiroshi
H
Kimura
Itaru
I
Itoyama
Yasuto
Y
D001921:Brain / Q000473:pathology; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D003062:Codon; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008609:Mental Status Schedule; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009710:Nucleotide Mapping; D014357:Trypsin / Q000235:genetics
D003062:Codon; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D014357:Trypsin; D003545:Cysteine