Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.
Bürk
K
K
Department of Neurology, University of Tübingen, Germany. buerk@uni-tuebingen.de
Zühlke
C
C
König
I R
IR
Ziegler
A
A
Schwinger
E
E
Globas
C
C
Dichgans
J
J
Hellenbroich
Y
Y
D000293:Adolescent; D000328:Adult; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D013049:Spectrin; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*
D009419:Nerve Tissue Proteins; C495133:SPTBN2 protein, human; D013049:Spectrin