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

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Title: A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Authors: Di Fonzo A (AUTHOR), Rohé CF (AUTHOR), Ferreira J (AUTHOR), Chien HF (AUTHOR), Vacca L (AUTHOR), Stocchi F (AUTHOR), Guedes L (AUTHOR), Fabrizio E (AUTHOR), Manfredi M (AUTHOR), Vanacore N (AUTHOR), Goldwurm S (AUTHOR), Breedveld G (AUTHOR), Sampaio C (AUTHOR), Meco G (AUTHOR), Barbosa E (AUTHOR), Oostra BA (AUTHOR), Bonifati V (AUTHOR), Italian Parkinson Genetics Network (CORPORATE AUTHOR), Di Fonzo, Alessio (AUTHOR), Rohé, Christan F (AUTHOR)
Source: Lancet. 1/29/2005, Vol. 365 Issue 9457, p412-415. 4p.
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. [ABSTRACT FROM AUTHOR]
Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
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  Data: <searchLink fieldCode="JN" term="%22Lancet%22">Lancet</searchLink>. 1/29/2005, Vol. 365 Issue 9457, p412-415. 4p.
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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