PMID: 11921134Mar 29, 2002Paper

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

Movement Disorders : Official Journal of the Movement Disorder Society
Giovanna ZorziNardo Nardocci

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.

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Citations

May 11, 2012·Journal of Neurology·Giovanni DefazioAlfredo Berardelli
May 25, 2012·Current Neurology and Neuroscience Reports·Woong-Woo LeeBeom Seok Jeon
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Jun 5, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Mark EdwardsKailash Bhatia
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Jun 8, 2021·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Meng-Chen WuChin-Hsien Lin

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