Article
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Lancet (London, England) - 1 Jan 2000
Di Fonzo Alessio, Rohé Christan F, Ferreira Joaquim, Chien Hsin F, Vacca Laura, Stocchi Fabrizio, Guedes Leonor, Fabrizio Edito, Manfredi Mario, Vanacore Nicola, Goldwurm Stefano, Breedveld Guido, Sampaio Cristina, Meco Giuseppe, Barbosa Egberto, Oostra Ben A, Bonifati Vincenzo
Abstract excerpt
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 d...
Topics
- Adult
- Age of Onset
- Aged
- Genes, Dominant
- Genotype
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Middle Aged
- Parkinson Disease
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Protein Serine-Threonine Kinases