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OMIM 606364 (www.ncbi.nlm.nih.gov/omim/).
Gen: Chr. 8q22.1-q24.1.
Repeat: ?
ADCA-type III.
In july 2001, researchers from Fukuoka, Japan,
reported the locus for SCA16 on chromosome 8q22.1-q24 in a
four-generation Japanese family, with 9 affected members. (Miyoshi
Y, Yamada
T, Tanimura
M, Taniwaki
T, Arakawa
K, Ohyagi
Y et al. A
novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome
8q22.1-24.1. Neurol 2001; 57(1):96-100.
) The symptoms
consisted of a pure cerebellar ataxia, starting between 20 and 66 years of age.
Three also had a tremor of the head. Brain MRI demonstrated isolated
cerebellar atrophy in all affected people.
Bron: Annual Update on Autosomal Dominant
Spinocerebelar Ataxia: 2001 / dr. E.R.P. Brunt / Euro-Ataxia: Euro-Ataxia
Newsletter 21, April 2002.
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