Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
Thirty Italian patients with sporadic, early-onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early-onset primary dystonia.
Zorzi
Giovanna
G
Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
Garavaglia
Barbara
B
Invernizzi
Federica
F
Girotti
Floriano
F
Soliveri
Paola
P
Zeviani
Massimo
M
Angelini
Lucia
L
Nardocci
Nardo
N
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007558:Italy; D008297:Male; D018832:Molecular Chaperones; D009154:Mutation / Q000235:genetics*
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human