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The study by Bressman et al.1 in this issue of Neurology explores the DYT1 phenotype in both Ashkenazi Jewish (AJ) and non-Jewish (NJ) populations with primary torsion dystonia (PTD) and provides guidelines for diagnostic testing in this disorder.
PTD is a clinically and genetically heterogeneous disorder. In children and adolescents, it usually starts in one limb and progresses within 5 years to other limbs and the trunk, rarely involving craniofacial muscles.2 This clinical subtype is transmitted as an autosomal dominant trait, has a low penetrance (30 to 40%), and is usually due to a trinucleotide (GAG) deletion in the DYT1 gene on chromosome 9q34.3 This deletion results in the loss of one of a pair of glutamic acid residues in a conserved region of the C-terminal domain of a novel ATP-binding protein (torsinA).3 A single founder mutation accounts for approximately 90% of such cases in AJ, …
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