...SCA-15

OMIM 606658 (www.ncbi.nlm.nih.gov/omim/).
Gen: Chr. 3pter-3p24.2.
Repeat: ?
ADCA-type III.

In november 2001, a group from Melbourne, Australia reported a single family with autosomal dominantly inherited pure cerebellar ataxia, which appeared not to be one of the known SCA's, and which was designated as SCA15.(Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM et al. A new autosomal dominant pure cerebellar ataxia. Neurology 2001; 57(10):1913-1915.) In a subsequent report a candidate locus for SCA15 was mentioned on chromosome 3pter-3p24.2. Of this family, 8 affected members have been examined. The first clinical symptoms started between 10 and 50 yrs and consisted of impaired handwriting, dysarthria and gait ataxia, and. The progression over many years is notably slow, as is obvious from preservation of independent ambulation in all, the longest disease duration being 54 years. Some of the affected members have additional symptoms including brisk reflexes, dysphagia, abnormal eye movements, and, rarely, mild titubation, postural tremor, and oscillopsia (oscillatory eye movements, causing shaking of the visual perception). Sensation and cognition remained unimpaired. MRI examination showed midline (vermis) cerebellar atrophy in all affected individuals. A search to find the gene is ongoing.

Bron: Annual Update on Autosomal Dominant Spinocerebelar Ataxia: 2001 / dr. E.R.P. Brunt / Euro-Ataxia: Euro-Ataxia Newsletter 21, April 2002