ParkinsonFranceV1, PascalFrancis, Curation, bibRecord, 000059

Association between early-onset Parkinson's disease and mutations in the Parkin gene

Identifieur interne : 000059 ( PascalFrancis/Curation ); précédent : 000058; suivant : 000060

Association between early-onset Parkinson's disease and mutations in the Parkin gene

Auteurs : C. B. Lücking [France] ; A. Dürr [France] ; V. Bonifati [Italie] ; J. Vaughan [Royaume-Uni] ; G. De Michele [Italie] ; T. Gasser [Allemagne] ; B. S. Harhangi [Pays-Bas] ; G. Meco [Italie] ; P. Denefle [France] ; N. W. Wood [Royaume-Uni] ; Y. Agid [France] ; A. Brice [France]

Source :

The New England journal of medicine [ 0028-4793 ] ; 2000.

RBID : Pascal:00-0276372

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Précoce, Temps établissement, Mutation, Réaction chaîne polymérase, Forme clinique, Phénotype, Etude comparative, Etiopathogénie, Homme, Etude familiale, Gène parkin.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Clinical form, Comparative study, Early, Etiopathogenesis, Family study, Human, Mutation, Onset time, Parkinson disease, Phenotype, Polymerase chain reaction.

Abstract

Background Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients. Methods We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations. Results Among the families with early-onset Parkinson's disease, 36 (49 percent) had parkin mutations. The age at onset ranged from 7 to 58 years. Among the patients with isolated Parkinson's disease, mutations were detected in 10 of 13 patients (77 percent) with an age at onset of 20 years or younger, but in only 2 of 64 patients (3 percent) with an age at onset of more than 30 years. The mean (±SD) age at onset in the patients with parkin mutations was younger than that in those without mutations (32±11 vs. 42± 11 years, P<0.001), and they were more likely to have symmetric involvement and dystonia at onset, to have hyperreflexia at onset or later, to have a good response to levodopa therapy, and to have levodopa-induced dyskinesias during treatment. Nineteen different rearrangements of exons (deletions and multiplications) and 16 different point mutations were detected. Conclusions Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.

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A14	`03`			`@1 Institute of Neurology @2 London @3 GBR @Z 4 aut. @Z 10 aut.`
A14	`04`			`@1 Dipartimento di Scienze Neurologiche, University Federico II @2 Naples @3 ITA @Z 5 aut.`
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A17	`01`	`1`		`@1 European Consortium on Genetic Susceptibility in Parkinson's Disease @3 EUR`
A17	`02`	`1`		`@1 French Parkinson's Disease Genetics Study Group @3 FRA`
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C01	`01`		`ENG`	@0 Background Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients. Methods We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations. Results Among the families with early-onset Parkinson's disease, 36 (49 percent) had parkin mutations. The age at onset ranged from 7 to 58 years. Among the patients with isolated Parkinson's disease, mutations were detected in 10 of 13 patients (77 percent) with an age at onset of 20 years or younger, but in only 2 of 64 patients (3 percent) with an age at onset of more than 30 years. The mean (±SD) age at onset in the patients with parkin mutations was younger than that in those without mutations (32±11 vs. 42± 11 years, P<0.001), and they were more likely to have symmetric involvement and dystonia at onset, to have hyperreflexia at onset or later, to have a good response to levodopa therapy, and to have levodopa-induced dyskinesias during treatment. Nineteen different rearrangements of exons (deletions and multiplications) and 16 different point mutations were detected. Conclusions Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.
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Le document en format XML

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<country>France</country>
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM Unité 289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
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<series><title level="j" type="main">The New England journal of medicine</title>
<title level="j" type="abbreviated">N. Engl. j. med.</title>
<idno type="ISSN">0028-4793</idno>
<imprint><date when="2000">2000</date>
</imprint>
</series>
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<seriesStmt><title level="j" type="main">The New England journal of medicine</title>
<title level="j" type="abbreviated">N. Engl. j. med.</title>
<idno type="ISSN">0028-4793</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Clinical form</term>
<term>Comparative study</term>
<term>Early</term>
<term>Etiopathogenesis</term>
<term>Family study</term>
<term>Human</term>
<term>Mutation</term>
<term>Onset time</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
<term>Polymerase chain reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Précoce</term>
<term>Temps établissement</term>
<term>Mutation</term>
<term>Réaction chaîne polymérase</term>
<term>Forme clinique</term>
<term>Phénotype</term>
<term>Etude comparative</term>
<term>Etiopathogénie</term>
<term>Homme</term>
<term>Etude familiale</term>
<term>Gène parkin</term>
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<front><div type="abstract" xml:lang="en">Background Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients. Methods We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations. Results Among the families with early-onset Parkinson's disease, 36 (49 percent) had parkin mutations. The age at onset ranged from 7 to 58 years. Among the patients with isolated Parkinson's disease, mutations were detected in 10 of 13 patients (77 percent) with an age at onset of 20 years or younger, but in only 2 of 64 patients (3 percent) with an age at onset of more than 30 years. The mean (±SD) age at onset in the patients with parkin mutations was younger than that in those without mutations (32±11 vs. 42± 11 years, P<0.001), and they were more likely to have symmetric involvement and dystonia at onset, to have hyperreflexia at onset or later, to have a good response to levodopa therapy, and to have levodopa-induced dyskinesias during treatment. Nineteen different rearrangements of exons (deletions and multiplications) and 16 different point mutations were detected. Conclusions Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Association between early-onset Parkinson's disease and mutations in the Parkin gene</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>LÜCKING (C. B.)</s1>
</fA11>
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<fA11 i1="10" i2="1"><s1>WOOD (N. W.)</s1>
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<fA14 i1="01"><s1>INSERM Unité 289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Dipartimento di Scienze Neurologiche, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Dipartimento di Scienze Neurologiche, University Federico II</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universität</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Epidemiology and Biostatistics, Erasmus University Medical School</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Evry Genomics Center, Aventis Pharma France</s1>
<s2>Evry</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>European Consortium on Genetic Susceptibility in Parkinson's Disease</s1>
<s3>EUR</s3>
</fA17>
<fA17 i1="02" i2="1"><s1>French Parkinson's Disease Genetics Study Group</s1>
<s3>FRA</s3>
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<fC01 i1="01" l="ENG"><s0>Background Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients. Methods We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations. Results Among the families with early-onset Parkinson's disease, 36 (49 percent) had parkin mutations. The age at onset ranged from 7 to 58 years. Among the patients with isolated Parkinson's disease, mutations were detected in 10 of 13 patients (77 percent) with an age at onset of 20 years or younger, but in only 2 of 64 patients (3 percent) with an age at onset of more than 30 years. The mean (±SD) age at onset in the patients with parkin mutations was younger than that in those without mutations (32±11 vs. 42± 11 years, P<0.001), and they were more likely to have symmetric involvement and dystonia at onset, to have hyperreflexia at onset or later, to have a good response to levodopa therapy, and to have levodopa-induced dyskinesias during treatment. Nineteen different rearrangements of exons (deletions and multiplications) and 16 different point mutations were detected. Conclusions Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.</s0>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

Association between early-onset Parkinson's disease and mutations in the Parkin gene

Association between early-onset Parkinson's disease and mutations in the Parkin gene

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