Premium
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
Author(s) -
Marongiu Roberta,
Ghezzi Daniele,
Ialongo Tamara,
Soleti Francesco,
Elia Antonio,
Cavone Stefania,
Albanese Alberto,
Altavista Maria Concetta,
Barone Paolo,
Brusa Livia,
Cortelli Pietro,
Petrozzi Lucia,
Scaglione Cesa,
Stanzione Paolo,
Tinazzi Michele,
Zeviani Massimo,
Dallapiccola Bruno,
Bentivoglio Anna Rita,
Valente Enza Maria,
Garavaglia Barbara
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20890
Subject(s) - proband , lrrk2 , haplotype , mutation , parkinson's disease , phenotype , genetics , disease , mutation frequency , age of onset , family history , medicine , biology , genotype , gene
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. © 2006 Movement Disorder Society