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

Am J Med Genet. 1995 Jun 19;60(3):206-9. doi: 10.1002/ajmg.1320600307.

Abstract

We report on a Spanish family with cooccurrence 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxin-1
  • Ataxins
  • Biomarkers
  • Bipolar Disorder / complications
  • Bipolar Disorder / genetics*
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnostic imaging
  • Cerebellar Ataxia / genetics*
  • Chromosome Mapping
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Radiography
  • Spain
  • X Chromosome*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Biomarkers
  • Nerve Tissue Proteins
  • Nuclear Proteins