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.

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease / R. Marongiu, D. Ghezzi, T. Ialongo, F. Soleti, A. Elia, S. Cavone, A. Albanese, M.C. Altavista, P. Barone, L. Brusa, P. Cortelli, L. Petrozzi, C. Scaglione, P. Stanzione, M. Tinazzi, M. Zeviani, B. Dallapiccola, A.R. Bentivoglio, E.M. Valente, B. Garavaglia, E. Conca, A. Fasano, C. Marelli, P. Martinelli, G. Nordera, M.T. Pellecchia. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - 21:8(2006), pp. 1232-1235.

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

D. Ghezzi;P. Barone;C. Marelli;
2006

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.
Parkinson's disease; LRRK2; Dardarin; mutation screening; Italy
Settore MED/03 - Genetica Medica
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/826595
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