ISSN:
1435-232X
Keywords:
spinocerebellar ataxia
;
HLA
;
linkage study
;
Holmes' ataxia
;
olivo-ponto-cerebellar atrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary Both autosomal dominant olivo-ponto-cerebellar atrophy (OPCA) and Holmes' ataxia are the progressive neurodegenerative disorders of adulthood with unknown biochemical defects. In order to determine the genetic locus and possible genetic heterogeneity, linkage study was performed in 19 OPCA families comprising 180 individuals with 60 affected patients, and two Holmes' ataxia families comprising 39 individuals with 10 affected patients. By using computer program LIPED, linkage of each disorder was analyzed to 12 blood groups, 5 red cell enzymes, HLA-A, −B, −C, and F13A. No evidence suggesting linkage to these two disorders was obtained in the markers examined, including three 6p markers such as HLA, GLO1, and F13A. Furthermore, in 14 out of 15 HLA-informative OPCA families, negative lod scores for OPCA with HLA were obtained at most recombination fractions. Our results provide further evidence suggesting the genetic heterogeneity of dominant OPCA.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01897783
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