[Autosomal dominant spinocerebellar degeneration with pigmentary retinopathy in a Japanese family].
We report a pedigree of autosomal dominant spinocerebellar degeneration associated with pigmental retinopathy. The proband is a 75-year-old man. He noticed night blindness at the age of 10 years and a diagnosis of bilateral pigmentary retinopathy was made at age 63. At the age of 65 years, he developed dysarthria and difficulty in walking. At age 69, neurological examination revealed cerebellar signs, and brain CT scans showed mild atrophy of the brain stem and cerebellum. Repeated brain CT scans revealed slight progression of the brain stem and cerebellar atrophy. Molecular genetic studies showed the absence of any mitochondrial DNA mutation at 8993. The father of the proband exhibited cerebellar signs and pigmentary retinopathy. One older brother had cerebellar signs and another had pigmentary retinopathy. To our knowledge, hereditary spinocerebellar degeneration with retinal degeneration is rare in Japan. This study is the first full report on hereditary spinocerebellar degeneration with pigmentary retinopathy in Japan, although an abstract was published by Konishi et al. We also discuss the neuropathological discordance on hereditary olivoponto-cerebellar atrophy with retinal degeneration.
Tsuchiya
K
K
Department of Neurology, Musashino Red Cross Hospital, Tokyo, Japan.
Watabiki
S
S
Owada
K
K
Uchihara
T
T
Yamamoto
M
M
Hamada
K
K
Misawa
A
A
Taki
K
K
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed