High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
Identifieur interne : 002E16 ( Main/Exploration ); précédent : 002E15; suivant : 002E17High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
Auteurs : Joaquim J. Ferreira [Portugal, Pays-Bas] ; Leonor Correia Guedes [Portugal] ; Mário Miguel Rosa [Portugal] ; Miguel Coelho [Portugal] ; Marina Van Doeselaar [Pays-Bas] ; Dorothea Schweiger [Pays-Bas] ; Alessio Di Fonzo [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Cristina Sampaio [Portugal] ; Vincenzo Bonifati [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-06-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Portugal.
English descriptors
- KwdEn :
- Adult, Aged, DNA Mutational Analysis, Exons (genetics), Familial disease, Female, Humans, LRRK2, Male, Middle Aged, Mutation, Nervous system diseases, Parkin, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Pedigree, Phenotype, Point Mutation (genetics), Portugal, Portugal (epidemiology), Prevalence, Protein-Serine-Threonine Kinases (genetics), Sporadic, mutation, parkin.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Portugal.
- epidemiology : Parkinson Disease.
- genetics : Exons, Parkinson Disease, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Prevalence.
Abstract
Mutations in the Leucine‐Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S‐positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work‐up and genetic counseling of patients with this disease in Portugal. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21525
Affiliations:
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Familial disease</term>
<term>Female</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Point Mutation (genetics)</term>
<term>Portugal</term>
<term>Portugal (epidemiology)</term>
<term>Prevalence</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Sporadic</term>
<term>mutation</term>
<term>parkin</term>
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<term>Mutation</term>
<term>Parkine</term>
<term>Parkinson maladie</term>
<term>Portugal</term>
<term>Prévalence</term>
<term>Sporadique</term>
<term>Système nerveux pathologie</term>
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<term>Aged</term>
<term>DNA Mutational Analysis</term>
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<front><div type="abstract" xml:lang="en">Mutations in the Leucine‐Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S‐positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work‐up and genetic counseling of patients with this disease in Portugal. © 2007 Movement Disorder Society</div>
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