Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) have been identified in both dominant and sporadic cases affected by Parkinson's disease (PD). The LRRK2 G2019S mutation (c.6055G>A) is the most frequent substitution in Caucasians, accounting for approximately 5-6% of familial and 0.5-2.0% of apparently sporadic PD cases. We investigated the frequency of the LRRK2 G2019S mutation in 98 unrelated Italian PD patients, including 12 probands belonging to families compatible with autosomal dominant inheritance (12%) and 86 sporadic cases (88%). We detected the G2019S mutation in one sporadic female patient (1.2%). These results confirm that the G2019S mutation is a relevant cause of sporadic PD cases in the Italian population and stress the importance of performing this genetic test, which has important implications for genetic counselling
Squillaro, T., Cambi, F., Ciacci, G., Rossi, S., Ulivelli, M., Malandrini, A., et al. (2007). Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease. JOURNAL OF HUMAN GENETICS, 52(3), 201-204 [10.1007/s10038-006-0105-2].
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
Rossi S.;Ulivelli M.;Malandrini A.;Mari F.;Renieri A.;Ariani F.
2007-01-01
Abstract
Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) have been identified in both dominant and sporadic cases affected by Parkinson's disease (PD). The LRRK2 G2019S mutation (c.6055G>A) is the most frequent substitution in Caucasians, accounting for approximately 5-6% of familial and 0.5-2.0% of apparently sporadic PD cases. We investigated the frequency of the LRRK2 G2019S mutation in 98 unrelated Italian PD patients, including 12 probands belonging to families compatible with autosomal dominant inheritance (12%) and 86 sporadic cases (88%). We detected the G2019S mutation in one sporadic female patient (1.2%). These results confirm that the G2019S mutation is a relevant cause of sporadic PD cases in the Italian population and stress the importance of performing this genetic test, which has important implications for genetic counsellingFile | Dimensione | Formato | |
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https://hdl.handle.net/11365/23211
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