title: Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
abstract: 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).
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Paolo
authors.initials: P
authors.lastname: Moretti
authors.forename: Peter
authors.initials: P
authors.lastname: Hedera
authors.forename: John
authors.initials: J
authors.lastname: Wald
authors.forename: John
authors.initials: J
authors.lastname: Fink
mesh_terms: 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
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human