A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

Alessio Di Fonzo, Christan F. Rohé, Joaquim Ferreira, Hsin F. Chien, Laura Vacca, Fabrizio Stocchi, Leonor Guedes, Edito Fabrizio, Mario Manfredi, Nicola Vanacore, Stefano Goldwurm, Guido Breedveld, Cristina Sampaio, Giuseppe Meco, Egberto Barbosa, Ben A. Oostra, Vincenzo Bonifati

Research output: Contribution to journalArticle

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 (Gly2019 ser) 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.

Original languageEnglish
Pages (from-to)412-415
Number of pages4
JournalLancet
Volume365
Issue number9457
DOIs
Publication statusPublished - Jan 29 2005

ASJC Scopus subject areas

  • Medicine(all)

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    Di Fonzo, A., Rohé, C. F., Ferreira, J., Chien, H. F., Vacca, L., Stocchi, F., Guedes, L., Fabrizio, E., Manfredi, M., Vanacore, N., Goldwurm, S., Breedveld, G., Sampaio, C., Meco, G., Barbosa, E., Oostra, B. A., & Bonifati, V. (2005). A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet, 365(9457), 412-415. https://doi.org/10.1016/S0140-6736(05)17829-5