J. Wahlstrom et al., THE GENE FOR FAMILIAL DYSTONIA WITH MYOCLONIC JERKS RESPONSIVE TO ALCOHOL IS NOT LOCATED ON THE DISTAL END OF 9Q, Clinical genetics, 45(2), 1994, pp. 88-92
A gene (DYT1) for susceptibility to early-onset torsion dystonia in As
hkenazi Jewish and Gentile kindreds is situated on chromosome 9q32 q34
in a 6-7 cM span between markers AKI and ASS. To determine whether tr
ansmission of familial dystonia with myoclonic jerks responsive to alc
ohol was consistent with a gene in this region, we studied the 37 memb
ers of a Swedish family, of whom 20 were so affected. A lod score of <
- 2.00 from a two-point linkage analysis with six DNA markers coverin
g a 30 cM span from D9S26 to D9S10 that included the region of the DYT
gene indicated that this gene is not located in this region, and that
two or more autosomal loci are responsible for hereditary dystonia in
humans.