MovDisordV3, Main, Exploration, bibRecord, 003C28

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations

Identifieur interne : 003C28 ( Main/Exploration ); précédent : 003C27; suivant : 003C29

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations

Auteurs : Joseph Wiley [Irlande (pays)] ; Timothy Lynch [Irlande (pays)] ; Sarah Lincoln [États-Unis] ; Lisa Skipper [États-Unis] ; Mary Hulihan [États-Unis] ; David Gosal [Irlande (pays)] ; Gina Bisceglio [États-Unis] ; Jennifer Kachergus [États-Unis] ; John Hardy [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-06.

RBID : ISTEX:8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF

Descripteurs français

Pascal (Inist)
- Homme, Hétérogénéité, Irlande, Mutation, Parkine, Parkinson maladie, Système nerveux pathologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adolescent, Adult, DNA Mutational Analysis, Female, Genetic Heterogeneity, Heterogeneity, Human, Humans, Ireland, Ireland (epidemiology), Male, Middle Aged, Mutation, Nervous system diseases, Parkin, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson disease, Parkinson's disease, Point Mutation (genetics), Ubiquitin-Protein Ligases (genetics), genetics, parkin.
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic , epidemiology : Ireland.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Point Mutation.
- physiopathology : Parkinson Disease.
- Adolescent, Adult, DNA Mutational Analysis, Female, Genetic Heterogeneity, Humans, Male, Middle Aged.

Abstract

Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF/fulltext/pdf

DOI: 10.1002/mds.10703

Affiliations:

Le document en format XML

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<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
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<author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name>
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<author><name sortKey="Skipper, Lisa" sort="Skipper, Lisa" uniqKey="Skipper L" first="Lisa" last="Skipper">Lisa Skipper</name>
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<author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name>
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<author><name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name>
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<author><name sortKey="Bisceglio, Gina" sort="Bisceglio, Gina" uniqKey="Bisceglio G" first="Gina" last="Bisceglio">Gina Bisceglio</name>
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<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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<term>Heterogeneity</term>
<term>Human</term>
<term>Humans</term>
<term>Ireland</term>
<term>Ireland (epidemiology)</term>
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<term>Parkinson Disease (genetics)</term>
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<front><div type="abstract" xml:lang="en">Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</div>
</front>
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<country name="États-Unis"><region name="Floride"><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name>
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<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name>
<name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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Movement Disorders (revue)

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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