A common LRRK2 mutation in idiopathic Parkinson's disease.
By W. Gilks, P. Abou-Sleiman, S. Gandhi, S. Jain, A. Singleton, A. Lees, K. Shaw, Kailash Bhatia, V. Bonifati, N. Quinn and 5 more. The Lancet, 2005
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Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease.
Subfields: Neurology, Plant Science
View Paper: https://www.semanticscholar.org/paper/c9deeb3cacd6a74e75eb2e1a477a615a1c0fb0d5
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Citations in the corpus
- Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (2009, background): “…kinase 1 (PINK1), leucine-rich repeat kinase 2 (LRRK2) and DJ-1 may also play a role in the sporadic form of the disease (Abou-Sleiman et al., 2003, 2006; Gilks et al., 2005) mutations in GBA have the highest prevalence with $3.7% of all sporadic Parkinson's disease cases being affected (Fig.”
- Parkinson's disease: genetics and pathogenesis. (2011, background): “The predominant pathology of LRRK2-associated disease is consistent with that of idiopathic PD and includes LB formation and associated neurodegeneration within the SN and other vulnerable brain regions (65, 75).”
- Epidemiology of Parkinson’s disease (2017, background): “Monogenetic causes of PD have been identified, but were considered very rare until the identification of leucine-rich repeat kinase (LRRK2) mutations (Gilks et al. 2005) that in selected populations cause up to 40% of the cases (Lesage and Brice 2012).”