Familial cosegregation of manic-depressive illness and a form of hereditary cerebellar ataxia.
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.
Fernández Piqueras
J
J
Departamento de Biología, Universidad Autónoma de Madrid, Spain.
Santos
J
J
Visedo
G
G
Pérez de Castro
I
I
Puertollano
R
R
Montejo
J
J
Ramo Tello
C
C
Valle
J
J
D000293:Adolescent; D000328:Adult; D000067696:Ataxin-1; D000067528:Ataxins; D015415:Biomarkers; D001714:Bipolar Disorder / Q000150:complications / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013030:Spain; D014960:X Chromosome
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D015415:Biomarkers; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins