Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder?
We report a non-Jewish, Anglo-Saxon, American family, in which one sibling has dystonia, a second has cerebellar ataxia, and a third has a combination of dystonia and ataxia. All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.
Adler
C H
CH
Department of Neurology, Graduate Hospital, Philadelphia, Pennsylvania.
Wrabetz
L
L
Brin
M F
MF
Hurtig
H I
HI
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*