ParkinsonCanadaV1, Main, Exploration, bibRecord, 003017

Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci

Identifieur interne : 003017 ( Main/Exploration ); précédent : 003016; suivant : 003018

Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci

Auteurs : David A. Grimes [Canada] ; J. David Grimes [Canada] ; Lem Racacho [Canada] ; Kylie A. Scoggan [Canada] ; Fabin Han [Canada] ; Betty Anne Schwarz [Canada] ; John Woulfe [Canada] ; Dennise Bulman [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2002-11.

RBID : ISTEX:FD1F8989C7036C5D149D990060F134DEBF0649E7

Descripteurs français

Pascal (Inist)
- Canada, Canadien français, Corps Lewy, Etude familiale, Exploration, Homme, Liaison génétique, Parkine, Parkinson maladie, α-Synucléine.
Wicri :
- geographic : Canada.
- topic : Homme.

English descriptors

KwdEn :
- Canada, Exploration, Family study, French canadian, Human, Lewy bodies, Lewy body, Linkage, Parkinson disease, Parkinson's disease, Synuclein, genetic testing, parkin, α‐synuclein.

Abstract

The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society

Url:

https://api-v5.istex.fr/document/FD1F8989C7036C5D149D990060F134DEBF0649E7/fulltext/pdf

DOI: 10.1002/mds.10272

Affiliations:

Canada

Le document en format XML

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<front><div type="abstract" xml:lang="en">The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society</div>
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La maladie de Parkinson au Canada (serveur d'exploration)

Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci

Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci

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

	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.