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| A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease |
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| Author(s): Di Fonzo A, Rohe CF, Ferreira RJ, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V |
| Source: LANCET Volume: 365 Issue: 9457 Pages: 412-415 Published: JAN-FEB 2005 |
| Times Cited: 188 References: 5 |
| Abstract: Mutations in the LRRK2 gene have been identified in families with autosomal dominant parkinsonism. We amplified and sequenced the coding region of LRRK2 from genomic DNA by PCR, and identified a heterozygous mutation (Gly2019Ser) present in four of 61 (6.6%) unrelated families with Parkinson's disease and autosomal dominant inheritance. The families originated from Italy, Portugal, and Brazil, indicating the presence of the mutation in different populations. The associated phenotype was broad, including early and late disease onset. These findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: Bonifati, V (reprint author), Erasmus MC Rotterdam, Dept Clin Genet, POB 1738, NL-3000 DR Rotterdam, Netherlands |
Addresses:
1. Erasmus MC Rotterdam, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
2. Univ Milan, IRCCS Osped Maggiore Policlin, Ctr Dino Ferrari, Dept Neurol Sci, Milan, Italy
3. Inst Mol Med, Neurol Clin Res Unit, Lisbon, Portugal
4. Univ Sao Paulo, Dept Neurol, Sao Paulo, Brazil
5. Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy
6. Natl Inst Hlth, Natl Ctr Epidemiol, Rome, Italy
7. Ist Clin Perfezionamento, Parkinson Inst, Milan, Italy |
| Publisher: LANCET LTD, 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND |
| Subject Category: Medicine, General & Internal |
| IDS Number: 891WE |
| ISSN: 0140-6736 |
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