LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Identifieur interne : 000E00 ( PubMed/Corpus ); précédent : 000D99; suivant : 000E01LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Auteurs : Suzanne Lesage ; Sabine Janin ; Ebba Lohmann ; Anne-Louise Leutenegger ; Laurence Leclere ; François Viallet ; Pierre Pollak ; Franck Durif ; Stéphane Thobois ; Valérie Layet ; Marie Vidailhet ; Yves Agid ; Alexandra Dürr ; Alexis Brice ; Anne-Marie Bonnet ; Michel Borg ; Emmanuel Broussolle ; Philippe Damier ; Alain Destée ; Maria Martinez ; Christiane Penet ; Olivier Rasco ; François Tison ; Christine Tranchan ; Marc VérinSource :
- Archives of neurology [ 0003-9942 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis (methods), Europe, Exons (genetics), Female, Histidine (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Serine (genetics), Threonine (genetics), Tyrosine (genetics).
- MESH :
- chemical , genetics : Histidine, Protein-Serine-Threonine Kinases, Serine, Threonine, Tyrosine.
- genetics : Exons, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Aged, Aged, 80 and over, Europe, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation.
Abstract
Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.
DOI: 10.1001/archneur.64.3.425
PubMed: 17353388
Links to Exploration step
pubmed:17353388Le document en format XML
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<term>DNA Mutational Analysis (methods)</term>
<term>Europe</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Histidine (genetics)</term>
<term>Humans</term>
<term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term>
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<front><div type="abstract" xml:lang="en">Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17353388</PMID>
<DateCreated><Year>2007</Year>
<Month>03</Month>
<Day>13</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>04</Month>
<Day>24</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>11</Month>
<Day>24</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN>
<JournalIssue CitedMedium="Print"><Volume>64</Volume>
<Issue>3</Issue>
<PubDate><Year>2007</Year>
<Month>Mar</Month>
</PubDate>
</JournalIssue>
<Title>Archives of neurology</Title>
<ISOAbbreviation>Arch. Neurol.</ISOAbbreviation>
</Journal>
<ArticleTitle>LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.</ArticleTitle>
<Pagination><MedlinePgn>425-30</MedlinePgn>
</Pagination>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases.</AbstractText>
<AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers.</AbstractText>
<AbstractText Label="DESIGN" NlmCategory="METHODS">We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed.</AbstractText>
<AbstractText Label="SETTING" NlmCategory="METHODS">French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe.</AbstractText>
<AbstractText Label="MAIN OUTCOME MEASURES" NlmCategory="METHODS">Results of genetic analyses.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName>
<ForeName>Suzanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Janin</LastName>
<ForeName>Sabine</ForeName>
<Initials>S</Initials>
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<Author ValidYN="Y"><LastName>Lohmann</LastName>
<ForeName>Ebba</ForeName>
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<Author ValidYN="Y"><LastName>Leutenegger</LastName>
<ForeName>Anne-Louise</ForeName>
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<ForeName>Laurence</ForeName>
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<ForeName>Pierre</ForeName>
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<ForeName>Michel</ForeName>
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</Author>
<Author ValidYN="Y"><LastName>Broussolle</LastName>
<ForeName>Emmanuel</ForeName>
<Initials>E</Initials>
</Author>
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<ForeName>Philippe</ForeName>
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</Author>
<Author ValidYN="Y"><LastName>Destée</LastName>
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</Author>
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</Author>
<Author ValidYN="Y"><LastName>Penet</LastName>
<ForeName>Christiane</ForeName>
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</Author>
<Author ValidYN="Y"><LastName>Rasco</LastName>
<ForeName>Olivier</ForeName>
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