Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).
SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an alpha-1A-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with SCA6, with a 7-year history of progressive pure cerebellar ataxia, died of malignant lymphoma. Systematic neuropathological examination showed that neuronal degeneration was confined to the cerebellar Purkinje cells and, to a lesser degree, the granular cells, without any involvement of other central nervous system structures. Such pathological selectivity correlates with the localized expression of the responsible gene, and coincides with the neurological manifestation. These findings might contribute to establishing the phenotype of the SCA6 via comparison with other dominant ataxias.
Sasaki
H
H
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
Kojima
H
H
Yabe
I
I
Tashiro
K
K
Hamada
T
T
Sawa
H
H
Hiraga
H
H
Nagashima
K
K
D017668:Age of Onset; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D015220:Calcium Channels / Q000235:genetics; D002529:Cerebellar Nuclei / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000097:blood; D005260:Female; D005838:Genotype; D006689:Hodgkin Disease / Q000150:complications / Q000188:drug therapy; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000473:pathology; D009679:Nuclear Family; D010375:Pedigree; D011689:Purkinje Cells / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D013345:Subarachnoid Hemorrhage / Q000150:complications / Q000473:pathology; D018911:Trinucleotide Repeats
D015220:Calcium Channels; D004247:DNA