Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

TitleFrequency of DYT1 mutation in early onset primary dystonia in Italian patients.
Publication TypeJournal Article
Year of Publication2002
AuthorsZorzi, G, Garavaglia, B, Invernizzi, F, Girotti, F, Soliveri, P, Zeviani, M, Angelini, L, Nardocci, N
JournalMov Disord
Volume17
Issue2
Pagination407-8
Date Published2002 Mar
ISSN0885-3185
KeywordsAdolescent, Adult, Carrier Proteins, Child, Child, Preschool, Dystonic Disorders, Female, Gene Frequency, Genetics, Population, Humans, Italy, Male, Molecular Chaperones, Mutation
Abstract

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.

DOI10.1002/mds.10045
Alternate JournalMov. Disord.
Citation Key10.1002/mds.10045
PubMed ID11921134