A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Identifieur interne : 001F64 ( Main/Exploration ); précédent : 001F63; suivant : 001F65A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Auteurs : Ebba Lohmann [France] ; Laurence Leclere ; Francesca De Anna ; Suzanne Lesage ; Bruno Dubois ; Yves Agid [France] ; Alexandra Dürr ; Alexis BriceSource :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2009.
English descriptors
- KwdEn :
- Aged, DNA Mutational Analysis (methods), Family Health, Female, France, Genetic Predisposition to Disease, Glycine (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Neuropsychological Tests, Olfaction Disorders (etiology), Olfaction Disorders (genetics), Olfaction Disorders (psychology), Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (psychology), Protein-Serine-Threonine Kinases (genetics), Serine (genetics).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- complications : Parkinson Disease.
- etiology : Olfaction Disorders.
- genetics : Mutation, Olfaction Disorders, Parkinson Disease.
- methods : DNA Mutational Analysis.
- psychology : Olfaction Disorders, Parkinson Disease.
- Aged, Family Health, Female, France, Genetic Predisposition to Disease, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Neuropsychological Tests.
Abstract
We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.
Url:
DOI: 10.1016/j.parkreldis.2008.06.008
PubMed: 18718805
Affiliations:
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Le document en format XML
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xml:lang="fr">France</country><wicri:regionArea>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Leclere, Laurence" sort="Leclere, Laurence" uniqKey="Leclere L" first="Laurence" last="Leclere">Laurence Leclere</name></author><author><name sortKey="De Anna, Francesca" sort="De Anna, Francesca" uniqKey="De Anna F" first="Francesca" last="De Anna">Francesca De Anna</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords 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evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="De Anna, Francesca" sort="De Anna, Francesca" uniqKey="De Anna F" first="Francesca" last="De Anna">Francesca De Anna</name><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Leclere, Laurence" sort="Leclere, Laurence" uniqKey="Leclere L" first="Laurence" last="Leclere">Laurence Leclere</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></region><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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