|Title||Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.|
|Publication Type||Journal Article|
|Year of Publication||2006|
|Authors||Marongiu, R, Ghezzi, D, Ialongo, T, Soleti, F, Elia, A, Cavone, S, Albanese, A, Altavista, MConcetta, Barone, P, Brusa, L, Cortelli, P, Petrozzi, L, Scaglione, C, Stanzione, P, Tinazzi, M, Zeviani, M, Dallapiccola, B, Bentivoglio, ARita, Valente, EMaria, Garavaglia, B|
|Date Published||2006 Aug|
|Keywords||Amino Acid Substitution, Female, Gene Frequency, Genetic Carrier Screening, Humans, Italy, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Mutation, Parkinson Disease, Phenotype, Protein-Serine-Threonine Kinases|
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.
|Alternate Journal||Mov. Disord.|