title: Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
abstract: 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.
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Byeong-Chae
authors.initials: BC
authors.lastname: Kim
authors.forename: Myeong-Kyu
authors.initials: MK
authors.lastname: Kim
authors.forename: Ki-Hyun
authors.initials: KH
authors.lastname: Cho
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
mesh_terms: 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