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

doi:10.1016/S0140-6736(05)17829-5

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 journal › Article › peer-review

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 language	English
Pages (from-to)	412-415
Number of pages	4
Journal	Lancet
Volume	365
Issue number	9457
DOIs	https://doi.org/10.1016/S0140-6736(05)17829-5
Publication status	Published - 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

Di Fonzo, A, Rohé, CF, Ferreira, J, 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 2005, 'A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease', Lancet, vol. 365, no. 9457, pp. 412-415. https://doi.org/10.1016/S0140-6736(05)17829-5

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title = "A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease",

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.",

author = "{Di Fonzo}, Alessio and Roh{\'e}, {Christan F.} and Joaquim Ferreira and Chien, {Hsin F.} and Laura Vacca and Fabrizio Stocchi and Leonor Guedes and Edito Fabrizio and Mario Manfredi and Nicola Vanacore and Stefano Goldwurm and Guido Breedveld and Cristina Sampaio and Giuseppe Meco and Egberto Barbosa and Oostra, {Ben A.} and Vincenzo Bonifati",

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doi = "10.1016/S0140-6736(05)17829-5",

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T1 - A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

AU - Di Fonzo, Alessio

AU - Rohé, Christan F.

AU - Ferreira, Joaquim

AU - Chien, Hsin F.

AU - Vacca, Laura

AU - Stocchi, Fabrizio

AU - Guedes, Leonor

AU - Fabrizio, Edito

AU - Manfredi, Mario

AU - Vanacore, Nicola

AU - Goldwurm, Stefano

AU - Breedveld, Guido

AU - Sampaio, Cristina

AU - Meco, Giuseppe

AU - Barbosa, Egberto

AU - Oostra, Ben A.

AU - Bonifati, Vincenzo

PY - 2005/1/29

Y1 - 2005/1/29

N2 - 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.

AB - 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.

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JO - The Lancet

JF - The Lancet

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

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