Authors: Hidenao Sasaki Akemi Wakisaka Toshiaki Katoh Michihiro C Yoshida Takeshi Hamada Kohji Shima Tohru Matsuura Kunio Tashiro
Publish Date: 1988/12
Volume: 33, Issue: 4, Pages: 423-
Abstract
Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptBoth autosomal dominant olivopontocerebellar 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 HLAA −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 HLAinformative 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
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