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Familial cosegregation of manic-depressive illness and a form of hereditary cerebellar ataxia

Journal Article · · American Journal of Medical Genetics
; ;  [1]
  1. Universidad Autonoma, Madrid (Spain); and others
We report on a Spanish family with co-occurrence of manic-depression and a form of hereditary cerebellar ataxia. All affected individuals in the second generation showed cerebellar ataxia and manic-depression simultaneously. Since anticipation has been described in both disorders and the pattern of segregation may be autosomal as well as X-linked, we have searched for a possible involvement of two candidate genes which are located either on an autosome (SCA1) or on the X-chromosome (GABRA3). We concluded that expansion of trinucleotide repeats at SCA1 gene cannot be considered as a disease-causing mutation, and this gene should be initially discarded. 19 refs., 3 figs.
Sponsoring Organization:
USDOE
OSTI ID:
443842
Journal Information:
American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 60; ISSN 0148-7299; ISSN AJMGDA
Country of Publication:
United States
Language:
English