Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.
Here, we report a familial spinocerebellar ataxia (FSCA), which has clinical features similar to Friedreich's ataxia, an ataxia with isolated vitamin E deficiency, and ataxia telangiectasia. However, the serum levels of creatine kinase, gamma-globulin, and alpha-fetoprotein were elevated, and biochemical and genetic analyses ruled out diagnosis of these three ataxias as well as other FSCAs. Thus, this family is thought to have a new type of FSCA.
Watanabe
M
M
Department of Neurology, Sawatari Spa Hospital, Gunma Medical Association, Agatsumagun, Japan.
Sugai
Y
Y
Concannon
P
P
Koenig
M
M
Schmitt
M
M
Sato
M
M
Shizuka
M
M
Mizushima
K
K
Ikeda
Y
Y
Tomidokoro
Y
Y
Okamoto
K
K
Shoji
M
M
D000328:Adult; D001260:Ataxia Telangiectasia / Q000097:blood / Q000150:complications / Q000235:genetics; D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood*; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology; D009431:Neural Conduction; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000097:blood* / Q000150:complications / Q000175:diagnosis; D011597:Psychomotor Performance; D013132:Spinocerebellar Degenerations / Q000097:blood* / Q000145:classification / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology; D013979:Tibial Nerve / Q000503:physiopathology; D014057:Tomography, X-Ray Computed; D014811:Vitamin E Deficiency / Q000150:complications*; D000509:alpha-Fetoproteins / Q000032:analysis*; D005719:gamma-Globulins / Q000032:analysis*
D007074:Immunoglobulin G; D000509:alpha-Fetoproteins; D005719:gamma-Globulins; D004247:DNA; D003402:Creatine Kinase