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

Giovanna Zorzi, Barbara Garavaglia, Federica Invernizzi, Floriano Girotti, Paola Soliveri, Massimo Zeviani, Lucia Angelini, Nardo Nardocci

Research output: Contribution to journalArticle

33 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)407-408
Number of pages2
JournalMovement Disorders
Volume17
Issue number2
DOIs
Publication statusPublished - Mar 2002

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Mutation Rate
Dystonia
Age of Onset
Mutation
Genetic Heterogeneity
Dystonia musculorum deformans type 1
Phenotype
Muscles

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Frequency of DYT1 mutation in early-onset primary dystonia in Italian patients. / Zorzi, Giovanna; Garavaglia, Barbara; Invernizzi, Federica; Girotti, Floriano; Soliveri, Paola; Zeviani, Massimo; Angelini, Lucia; Nardocci, Nardo.

In: Movement Disorders, Vol. 17, No. 2, 03.2002, p. 407-408.

Research output: Contribution to journalArticle

Zorzi, Giovanna ; Garavaglia, Barbara ; Invernizzi, Federica ; Girotti, Floriano ; Soliveri, Paola ; Zeviani, Massimo ; Angelini, Lucia ; Nardocci, Nardo. / Frequency of DYT1 mutation in early-onset primary dystonia in Italian patients. In: Movement Disorders. 2002 ; Vol. 17, No. 2. pp. 407-408.
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