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Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

✍ Scribed by Roberta Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio Elia; Stefania Cavone; Alberto Albanese; Maria Concetta Altavista; Paolo Barone; Livia Brusa; Pietro Cortelli; Lucia Petrozzi; Cesa Scaglione; Paolo Stanzione; Michele Tinazzi; Massimo Zeviani; Bruno Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente; Barbara Garavaglia

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
74 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation fre-quency raised from 1.2% in early onset PD to 4.0% in late onset PD.

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