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Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights.
U Rüb
1 ,
K Bürk ,
D Timmann ,
W den Dunnen ,
K Seidel ,
K Farrag ,
E Brunt ,
H Heinsen ,
R Egensperger ,
A Bornemann ,
S Schwarzacher ,
H-W Korf ,
L Schöls ,
J Bohl ,
T Deller
Dec 2012
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Abstract
Spinocerebellar ataxia type 1 (SCA1) represents the first molecular genetically characterized autosomal dominantly inherited cerebellar ataxia and is assigned to the CAG-repeat or polyglutamine diseases. Owing to limited knowledge about SCA1 neuropathology, appropriate pathoanatomical correlates of a large variety of SCA1 disease symptoms are missing and the neuropathological basis for further morphological and experimental SCA1 studies is still fragmentary.