A multidisciplinary study of patients with early-onset PD with and without parkin mutations
Identifieur interne : 002214 ( Main/Exploration ); précédent : 002213; suivant : 002215A multidisciplinary study of patients with early-onset PD with and without parkin mutations
Auteurs : E. Lohmann [France] ; S. Thobois [France] ; S. Lesage [France] ; E. Broussolle [France] ; S. Tezenas Du Montcel [France] ; M.-J. Ribeiro [France] ; P. Remy [France] ; A. Pelissolo [France] ; B. Dubois [France] ; L. Mallet [France] ; P. Pollak [France] ; Yves Agid [France] ; A. Brice [France]Source :
- Neurology [ 0028-3878 ] ; 2009.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Antiparkinson Agents (administration & dosage), Antiparkinson Agents (adverse effects), Cognition Disorders (diagnosis), Cognition Disorders (epidemiology), Cognition Disorders (genetics), Comorbidity, DNA Mutational Analysis, Depressive Disorder (diagnosis), Depressive Disorder (epidemiology), Depressive Disorder (genetics), Disease Progression, Drug Resistance (genetics), Female, Genetic Predisposition to Disease (genetics), Genetic Testing, Genotype, Human, Humans, Male, Middle Aged, Mutation, Nervous system diseases, Parkin, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson Disease (psychology), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , administration & dosage : Antiparkinson Agents.
- chemical , adverse effects : Antiparkinson Agents.
- diagnosis : Cognition Disorders, Depressive Disorder.
- epidemiology : Cognition Disorders, Depressive Disorder, Parkinson Disease.
- genetics : Cognition Disorders, Depressive Disorder, Drug Resistance, Genetic Predisposition to Disease, Parkinson Disease, Ubiquitin-Protein Ligases.
- psychology : Parkinson Disease.
- Adult, Age of Onset, Aged, Comorbidity, DNA Mutational Analysis, Disease Progression, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Severity of Illness Index.
Abstract
Objective: To establish phenotype-genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations. Background: Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. The usual clinical features are early-onset typical PD with a slow clinical course, an excellent response to low doses of levodopa, frequent treatment-induced dyskinesias, and the absence of dementia. Methods: A total of 44 patients with EOPD (21 with and 23 without parkin mutations) and 9 unaffected single heterozygous carriers of parkin mutations underwent extensive clinical, neuropsychological, and psychiatric examinations. Results: The neurologic, neuropsychological, and psychiatric features were similar in all patients, except for significantly lower daily doses of dopaminergic treatment and greater delay in the development of levodopa-related fluctuations (p < 0.05) in parkin mutation carriers compared to noncarriers. There was no major difference between the two groups in terms of general cognitive efficiency. Psychiatric manifestations (depression) were more frequent in patients than in healthy single heterozygous parkin carriers but did not differ between the two groups of patients. Conclusion: Carriers of parkin mutations are clinically indistinguishable from other patients with young-onset Parkinson disease (PD) on an individual basis. Severe generalized loss of dopaminergic neurons in the substantia nigra pars compacta in these patients is associated with an excellent response to low doses of dopa-equivalent and delayed fluctuations, but cognitive impairment and special behavioral or psychiatric symptoms were not more severe than in other patients with early-onset PD.
Url:
Affiliations:
- France
- Auvergne-Rhône-Alpes, Rhône-Alpes, Île-de-France
- Créteil, Lyon, Orsay, Paris
- Hôpital de la Salpêtrière
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Le document en format XML
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Pelissolo</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>CHU Henri Mondor AP-HP et Faculte de Médecine Paris 12</s1><s2>Créteil</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B." last="Dubois">B. Dubois</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>AP-HP Pitié-Salpetriere Hospital, Department of Psychiatry</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>INSERM UMR 610 Neuroanatomie Fonctionnelle du Comportement et de ses Troubles</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mallet, L" sort="Mallet, L" uniqKey="Mallet L" first="L." last="Mallet">L. Mallet</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>AP-HP Pitié-Salpêtrière Hospital, Centre de Référence sur la Maladie de Pick</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P." last="Pollak">P. Pollak</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Inserm Avenir Group IFR 70 Behaviour Emotion and Basal Ganglia, Center of Clinical Investigation</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM UMR_S679 Neurologic & Therapeurique Expérimentale</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>UPMC Univ Paris 06 UMR_S679</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</s1><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</wicri:noRegion><wicri:noRegion>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</wicri:noRegion><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="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. 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Lohmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM UMR_S679 Neurologic & Therapeurique Expérimentale</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>UPMC Univ Paris 06 UMR_S679</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Thobois, S" sort="Thobois, S" uniqKey="Thobois S" first="S." last="Thobois">S. Thobois</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>University of Lyon I and INSERM UMR 864 and The Pierre Werrheimer Neurological Hospital Department of Neurology</s1><s2>Lyon</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S." last="Lesage">S. Lesage</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM UMR_S679 Neurologic & Therapeurique Expérimentale</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>UPMC Univ Paris 06 UMR_S679</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Broussolle, E" sort="Broussolle, E" uniqKey="Broussolle E" first="E." last="Broussolle">E. Broussolle</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>University of Lyon I and INSERM UMR 864 and The Pierre Werrheimer Neurological Hospital Department of Neurology</s1><s2>Lyon</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Tezenas Du Montcel, S" sort="Tezenas Du Montcel, S" uniqKey="Tezenas Du Montcel S" first="S." last="Tezenas Du Montcel">S. Tezenas Du Montcel</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>AP-HP Pitie-Salpetriere Hospital, Department of Public Health, Unit of de Biostatistics and Medical Information and Unit of Medical Research</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>UPMC Univ Paris 06 EA3974 Modelisation in Clinical Research</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ribeiro, M J" sort="Ribeiro, M J" uniqKey="Ribeiro M" first="M.-J." last="Ribeiro">M.-J. Ribeiro</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>CEA 12BM, Service Hospitalier Frédéric Joliot</s1><s2>Orsay</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Orsay</settlement></placeName></affiliation></author><author><name sortKey="Remy, P" sort="Remy, P" uniqKey="Remy P" first="P." last="Remy">P. Remy</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>CEA 12BM, URA-CEA-CNRS 2210</s1><s2>Orsay</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Orsay</settlement></placeName></affiliation></author><author><name sortKey="Pelissolo, A" sort="Pelissolo, A" uniqKey="Pelissolo A" first="A." last="Pelissolo">A. Pelissolo</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>CHU Henri Mondor AP-HP et Faculte de Médecine Paris 12</s1><s2>Créteil</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B." last="Dubois">B. Dubois</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>AP-HP Pitié-Salpetriere Hospital, Department of Psychiatry</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>INSERM UMR 610 Neuroanatomie Fonctionnelle du Comportement et de ses Troubles</s1><s2>Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mallet, L" sort="Mallet, L" uniqKey="Mallet L" first="L." last="Mallet">L. Mallet</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>AP-HP Pitié-Salpêtrière Hospital, Centre de Référence sur la Maladie de Pick</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P." last="Pollak">P. Pollak</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Inserm Avenir Group IFR 70 Behaviour Emotion and Basal Ganglia, Center of Clinical Investigation</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM UMR_S679 Neurologic & Therapeurique Expérimentale</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>UPMC Univ Paris 06 UMR_S679</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><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><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</s1><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</wicri:noRegion><wicri:noRegion>Department of Clinical and Biological Neurosciences University Hospital of Grenoble</wicri:noRegion><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="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM UMR_S679 Neurologic & Therapeurique Expérimentale</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of the Nervous System Disorders</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>UPMC Univ Paris 06 UMR_S679</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>AP-HP Pitié-Salpêtrière Hospital, Clinical Investigation Center</s1><s2>Paris</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>AP-HP Pitié-Salpêtrière Hospital, Department of Genetics and Cyrogenetics</s1><s2>Paris</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Antiparkinson Agents (administration & dosage)</term><term>Antiparkinson Agents (adverse effects)</term><term>Cognition Disorders (diagnosis)</term><term>Cognition Disorders (epidemiology)</term><term>Cognition Disorders (genetics)</term><term>Comorbidity</term><term>DNA Mutational Analysis</term><term>Depressive Disorder (diagnosis)</term><term>Depressive Disorder (epidemiology)</term><term>Depressive Disorder (genetics)</term><term>Disease Progression</term><term>Drug Resistance (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Genotype</term><term>Human</term><term>Humans</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 (psychology)</term><term>Severity of Illness Index</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Antiparkinson Agents</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term><term>Depressive Disorder</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Cognition Disorders</term><term>Depressive Disorder</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Depressive Disorder</term><term>Drug Resistance</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Comorbidity</term><term>DNA Mutational Analysis</term><term>Disease Progression</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Homme</term><term>Parkine</term><term>Mutation</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To establish phenotype-genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations. Background: Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. The usual clinical features are early-onset typical PD with a slow clinical course, an excellent response to low doses of levodopa, frequent treatment-induced dyskinesias, and the absence of dementia. Methods: A total of 44 patients with EOPD (21 with and 23 without parkin mutations) and 9 unaffected single heterozygous carriers of parkin mutations underwent extensive clinical, neuropsychological, and psychiatric examinations. Results: The neurologic, neuropsychological, and psychiatric features were similar in all patients, except for significantly lower daily doses of dopaminergic treatment and greater delay in the development of levodopa-related fluctuations (p < 0.05) in parkin mutation carriers compared to noncarriers. There was no major difference between the two groups in terms of general cognitive efficiency. Psychiatric manifestations (depression) were more frequent in patients than in healthy single heterozygous parkin carriers but did not differ between the two groups of patients. Conclusion: Carriers of parkin mutations are clinically indistinguishable from other patients with young-onset Parkinson disease (PD) on an individual basis. Severe generalized loss of dopaminergic neurons in the substantia nigra pars compacta in these patients is associated with an excellent response to low doses of dopa-equivalent and delayed fluctuations, but cognitive impairment and special behavioral or psychiatric symptoms were not more severe than in other patients with early-onset PD.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><settlement><li>Créteil</li><li>Lyon</li><li>Orsay</li><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E." last="Lohmann">E. Lohmann</name></region><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Broussolle, E" sort="Broussolle, E" uniqKey="Broussolle E" first="E." last="Broussolle">E. Broussolle</name><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B." last="Dubois">B. Dubois</name><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B." last="Dubois">B. Dubois</name><name sortKey="Dubois, B" sort="Dubois, B" uniqKey="Dubois B" first="B." last="Dubois">B. Dubois</name><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S." last="Lesage">S. Lesage</name><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S." last="Lesage">S. Lesage</name><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E." last="Lohmann">E. Lohmann</name><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E." last="Lohmann">E. Lohmann</name><name sortKey="Mallet, L" sort="Mallet, L" uniqKey="Mallet L" first="L." last="Mallet">L. Mallet</name><name sortKey="Pelissolo, A" sort="Pelissolo, A" uniqKey="Pelissolo A" first="A." last="Pelissolo">A. Pelissolo</name><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P." last="Pollak">P. Pollak</name><name sortKey="Remy, P" sort="Remy, P" uniqKey="Remy P" first="P." last="Remy">P. Remy</name><name sortKey="Ribeiro, M J" sort="Ribeiro, M J" uniqKey="Ribeiro M" first="M.-J." last="Ribeiro">M.-J. Ribeiro</name><name sortKey="Tezenas Du Montcel, S" sort="Tezenas Du Montcel, S" uniqKey="Tezenas Du Montcel S" first="S." last="Tezenas Du Montcel">S. Tezenas Du Montcel</name><name sortKey="Tezenas Du Montcel, S" sort="Tezenas Du Montcel, S" uniqKey="Tezenas Du Montcel S" first="S." last="Tezenas Du Montcel">S. Tezenas Du Montcel</name><name sortKey="Thobois, S" sort="Thobois, S" uniqKey="Thobois S" first="S." last="Thobois">S. Thobois</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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