[A case of Friedreich's ataxia having no abnormal gene].
We report here a 25-year-old girl with Friedreich's ataxia (FA) who showed slowly progressive ataxia, deep sensory disturbance and loss of large myelinated fiber in the sural nerve. There was no evidence of cerebellar atrophy or abnormal values of vitamin E, albumin, CK, and gamma-globulin in the serum. Except for mild mental retardation, her clinical and laboratory findings were consistent with those of FA. However, she had no abnormal GAA trinucleotide repeat expansion on chromosome 9q13, unlike typical FA patients in Europe. Her cardiac muscle is not involved instead of 20 years have passed since her ataxia developed. She is considered to belong to a specific type of FA which lacks cardiac muscle involvement and abnormal gene encoding frataxin.
Division of Pediatric Neurology, Yokohama Ryouikuen, Yokohama, Kanagawa.
Seiji
S
Kimura
Yoshiaki
Y
Saito
Kaori
K
Kaneko
Atsuo
A
Nezu
D000328:Adult; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans