-
- 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, and Italian Parkinson Genetics Network.
- Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, Netherlands.
- Lancet. 2005 Jan 29; 365 (9457): 412415412-5.
AbstractMutations 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.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..