| Literature DB >> 16622859 |
Roberta Marongiu1, 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.
Abstract
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 frequency raised from 1.2% in early onset PD to 4.0% in late onset PD. (c) 2006 Movement Disorder SocietyEntities:
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Year: 2006 PMID： 16622859 DOI： 10.1002/mds.20890
Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338