[Siblings of early onset cerebellar ataxia with hypoalbuminemia].

  title={[Siblings of early onset cerebellar ataxia with hypoalbuminemia].},
  author={Tokiji Hanihara and Hayato Kubota and Naoji Amano and Hiroko Iwamoto and Kiyoshi Iwabuchi},
  journal={Rinsho shinkeigaku = Clinical neurology},
  volume={35 1},
Recently, a new syndrome of early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) was reported in Japan. The clinical features of EOCA-HA overlap with those of Friedreich's ataxia (FA), and primary hypoalbuminemia is a characteristic laboratory finding of this syndrome. Genetic linkage analysis of EOCA-HA including this newly reported family revealed that the gene for EOCA-HA is located on the long arm of chromosome 9 as FA. However, several recombination events were observed between… CONTINUE READING