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OMIM - (www.ncbi.nlm.nih.gov/omim/).
Gen: Chr. 7q31-32.
Repeat: ?
ADCA-type I, ADCA-type III.
Last autumn (2001),
at the meeting of the American Society of Human Genetics, SCA18 was reported by
a group from Seattle and Columbus in the USA, as a new syndrome of a hereditary sensory and cerebellar ataxia with muscle
atrophy. They reported on a four generation American family of Irish ancestry,
of which affected members showed ataxia, with variably presence of sensory loss,
pyramidal tract signs and proximal weakness. The first manifestations usually
appeared in adolescence and progression was slow, with normal life expectancy.
Neurophysiological investigations showed motor and sensory neuropathy, and brain
MRI showed mild cerebellar atrophy. With a maximum LOD
score of 6.36 (the chance of an error being about one in a million), strong
linkage was found with a locus in a 14-cm region chromosome at 7q31-7q32.
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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