Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
Identifieur interne : 003C66 ( PubMed/Checkpoint ); précédent : 003C65; suivant : 003C67Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
Auteurs : H. Ujike [Japon] ; M. Yamamoto ; A. Kanzaki ; K. Okumura ; M. Takaki ; S. KurodaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proteins.
- chemical : Ligases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Japan.
- epidemiology : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Age of Onset, Aged, Catchment Area (Health), Cohort Studies, Exons, Female, Gene Deletion, Homozygote, Humans, Male, Prevalence.
Abstract
Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.
PubMed: 11215568
Affiliations:
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pubmed:11215568Le document en format XML
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<author><name sortKey="Ujike, H" sort="Ujike, H" uniqKey="Ujike H" first="H" last="Ujike">H. Ujike</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neuropsychiatry, Okayama University Medical School, Japan. hujike@cc.okayama-u.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuropsychiatry, Okayama University Medical School</wicri:regionArea>
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<author><name sortKey="Yamamoto, M" sort="Yamamoto, M" uniqKey="Yamamoto M" first="M" last="Yamamoto">M. Yamamoto</name>
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<author><name sortKey="Kanzaki, A" sort="Kanzaki, A" uniqKey="Kanzaki A" first="A" last="Kanzaki">A. Kanzaki</name>
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<author><name sortKey="Okumura, K" sort="Okumura, K" uniqKey="Okumura K" first="K" last="Okumura">K. Okumura</name>
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<author><name sortKey="Takaki, M" sort="Takaki, M" uniqKey="Takaki M" first="M" last="Takaki">M. Takaki</name>
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<author><name sortKey="Kuroda, S" sort="Kuroda, S" uniqKey="Kuroda S" first="S" last="Kuroda">S. Kuroda</name>
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<front><div type="abstract" xml:lang="en">Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.</div>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.</ArticleTitle>
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<Abstract><AbstractText>Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.</AbstractText>
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