Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
We describe the clinical features of a brother and sister with non-dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2).
Moretti
Paolo
P
Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Hedera
Peter
P
Wald
John
J
Fink
John
J
D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics; D035781:Siblings
D018832:Molecular Chaperones; C108175:TOR1A protein, human