Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.
Brancati
Francesco
F
Istituto C.S.S. Mendel, Rome, Italy.
Defazio
Giovanni
G
Caputo
Viviana
V
Valente
Enza Maria
EM
Pizzuti
Antonio
A
Livrea
Paolo
P
Berardelli
Alfredo
A
Dallapiccola
Bruno
B
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics
D005819:Genetic Markers