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: