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.

Marongiu, R., Ghezzi, D., Ialongo, T., Soleti, F., Elia, A. E., Cavone, S., Albanese, A., Altavista, M. C., Barone, P., Brusa, L., Cortelli, P., Petrozzi, L., Scaglione, C., Stanzione, P., Tinazzi, M., Zeviani, M., Dallapiccola, B., Bentivoglio, A. R., Valente, E. M., Garavaglia, B., Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease, <<MOVEMENT DISORDERS>>, 2006; 21 (8): 1232-1235. [doi:10.1002/mds.20890] [http://hdl.handle.net/10807/27325]

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

Ialongo, Tamara;Soleti, Francesco;Elia, Antonio Emanuele;Albanese, Alberto;Bentivoglio, Anna Rita;
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.
Inglese
Marongiu, R., Ghezzi, D., Ialongo, T., Soleti, F., Elia, A. E., Cavone, S., Albanese, A., Altavista, M. C., Barone, P., Brusa, L., Cortelli, P., Petrozzi, L., Scaglione, C., Stanzione, P., Tinazzi, M., Zeviani, M., Dallapiccola, B., Bentivoglio, A. R., Valente, E. M., Garavaglia, B., Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease, <<MOVEMENT DISORDERS>>, 2006; 21 (8): 1232-1235. [doi:10.1002/mds.20890] [http://hdl.handle.net/10807/27325]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/27325
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