Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42.
Kim
Byeong-Chae
BC
Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
Kim
Myeong-Kyu
MK
Cho
Ki-Hyun
KH
Jeon
Beom S
BS
D001921:Brain / Q000473:pathology; D006801:Humans; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology*; D019680:Trinucleotide Repeat Expansion