Recent results in ataxia research.
Five families with late onset spinocerebellar ataxia (SCA) were studied. A high association was found between the disease and HLA. A stronger association results with a marker called D6S89. Clinical data of 26 patients and neuropathological study in two are reported. The clinical phenotypes of other HLA-linked SCA kindreds shows differences when comparison is made. The Authors suggest that the phenotype might appear more homogeneous if disease duration is taken into account.
Giunti
P
P
Istituto di Clinica delle Malattie Nervose e Mentali, Università La Sapienza, Roma.
Spadaro
M
M
Colazza
G B
GB
Morocutti
C
C
D000328:Adult; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000145:classification* / Q000453:epidemiology / Q000235:genetics / Q000473:pathology
D005819:Genetic Markers; D006680:HLA Antigens