Copyright 2001 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2001
In the March 2000 issue of the ARCHIVES, Brassat and colleagues1 describe the results of DYT1 GAG deletion screening in 100 nonfamilial primary dystonia patients recruited from 4 botulinim toxin clinics in Paris, France. Their patients had primarily adult-onset torsion dystonia (mean ± SD age at onset, 43.9 ± 17.9 years). Of the 100 patients, 69 had focal dystonia (49 involving cervical or cranial muscles), 21 had segmental dystonia, and 10 had generalized dystonia. Not surprisingly, they found only 5 mutation carriers, 4 of whom were from the small group with generalized dystonia. Their findings support those of previous studies,2 including our prior description of the DYT1 phenotype in non-Jewish and Ashkenazi families.3- 7 However, several remarks made in their conclusions require further comment.
Bressman SB, Fahn S, Ozelius LJ, Kramer PL, Risch NJ. The DYT1 Mutation and Nonfamilial Primary Torsion Dystonia. Arch Neurol. 2001;58(4):681-682. doi: