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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
Ist Teil von
Nature genetics, 1999-12, Vol.23 (4), p.391-392
Ort / Verlag
London: Nature Publishing Group
Erscheinungsjahr
1999
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar
ataxias (SCAs) have yet to be elucidated. We have recently
identified a novel form of autosomal dominant SCA, termed SCA12, in a large
pedigree ('R') of German descent. The phenotype is variable, but the prototypical
phenotype is that of a classic spinocerebellar ataxia, and the disease resembles
the spinocerebellar ataxias more closely than any other form of neurodegenerative
disorder. Age of onset ranges from 8 to 55 years. Most individuals present
in the fourth decade with upper extremity tremor, progressing over several
decades to include head tremor, gait ataxia, dysmetria, dysdiadokinesis, hyperreflexia,
paucity of movement, abnormal eye movements and, in the oldest subjects, dementia.
MRI or CT scans of five cases indicate both cortical and cerebellar atrophy.