ParkinsonCanadaV1, PascalFrancis, Corpus, bibRecord, 000B45

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

Identifieur interne : 000B45 ( PascalFrancis/Corpus ); précédent : 000B44; suivant : 000B46

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

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

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:03-0039744

Descripteurs français

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

English descriptors

KwdEn :
- Canada, Exploration, Family study, French canadian, Human, Lewy body, Linkage, Parkinson disease, 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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Large French-Canadian family with Lewy body parkinsonism: Exclusion of known loci`
A11	`01`	`1`		`@1 GRIMES (David A.)`
A11	`02`	`1`		`@1 GRIMES (J. David)`
A11	`03`	`1`		`@1 RACACHO (Lem)`
A11	`04`	`1`		`@1 SCOGGAN (Kylie A.)`
A11	`05`	`1`		`@1 HAN (Fabin)`
A11	`06`	`1`		`@1 SCHWARZ (Betty Anne)`
A11	`07`	`1`		`@1 WOULFE (John)`
A11	`08`	`1`		`@1 BULMAN (Dennise)`
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A14	`03`			`@1 Health Canada, Nutrition Research Division @2 Ottawa, Ontario @3 CAN @Z 4 aut.`
A14	`04`			`@1 Department of Pathology and Laboratory Medicine, The Ottawa Hospital @2 Ottawa, Ontario @3 CAN @Z 7 aut.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17G`
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Format Inist (serveur)

NO :	PASCAL 03-0039744 INIST
ET :	Large French-Canadian family with Lewy body parkinsonism: Exclusion of known loci
AU :	GRIMES (David A.); GRIMES (J. David); RACACHO (Lem); SCOGGAN (Kylie A.); HAN (Fabin); SCHWARZ (Betty Anne); WOULFE (John); BULMAN (Dennise)
AF :	Ottawa Health Research Institute/Ottawa, Ontario/Canada (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Parkinson's Disease and Movement Disorders Clinic/Ottawa, Ontario/Canada (1 aut., 2 aut., 6 aut.); Health Canada, Nutrition Research Division/Ottawa, Ontario/Canada (4 aut.); Department of Pathology and Laboratory Medicine, The Ottawa Hospital/Ottawa, Ontario/Canada (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 6; Pp. 1205-1212; Bibl. 32 ref.
LA :	Anglais
EA :	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.
CC :	002B17G
FD :	Parkinson maladie; Corps Lewy; Liaison génétique; Etude familiale; Exploration; Homme; Canada; Canadien français; Parkine; α-Synucléine
FG :	Amérique du Nord; Amérique; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Génétique
ED :	Parkinson disease; Lewy body; Linkage; Family study; Exploration; Human; Canada; French canadian; Synuclein
EG :	North America; America; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetics
SD :	Parkinson enfermedad; Cuerpo Lewy; Ligamiento genético; Estudio familiar; Exploración; Hombre; Canada; Canadiense francés
LO :	INIST-20953.354000105559450090
ID :	03-0039744

Links to Exploration step

Pascal:03-0039744

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.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Large French-Canadian family with Lewy body parkinsonism: Exclusion of known loci</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>GRIMES (David A.)</s1>
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<fA11 i1="02" i2="1"><s1>GRIMES (J. David)</s1>
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<fA11 i1="03" i2="1"><s1>RACACHO (Lem)</s1>
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<fA11 i1="04" i2="1"><s1>SCOGGAN (Kylie A.)</s1>
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<fA11 i1="05" i2="1"><s1>HAN (Fabin)</s1>
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<fA11 i1="06" i2="1"><s1>SCHWARZ (Betty Anne)</s1>
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<fA11 i1="07" i2="1"><s1>WOULFE (John)</s1>
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<fA11 i1="08" i2="1"><s1>BULMAN (Dennise)</s1>
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<fA14 i1="01"><s1>Ottawa Health Research Institute</s1>
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<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<fA14 i1="02"><s1>Parkinson's Disease and Movement Disorders Clinic</s1>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
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<fA14 i1="03"><s1>Health Canada, Nutrition Research Division</s1>
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<s3>CAN</s3>
<sZ>4 aut.</sZ>
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<fA14 i1="04"><s1>Department of Pathology and Laboratory Medicine, The Ottawa Hospital</s1>
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<s3>CAN</s3>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<server><NO>PASCAL 03-0039744 INIST</NO>
<ET>Large French-Canadian family with Lewy body parkinsonism: Exclusion of known loci</ET>
<AU>GRIMES (David A.); GRIMES (J. David); RACACHO (Lem); SCOGGAN (Kylie A.); HAN (Fabin); SCHWARZ (Betty Anne); WOULFE (John); BULMAN (Dennise)</AU>
<AF>Ottawa Health Research Institute/Ottawa, Ontario/Canada (1 aut., 3 aut., 4 aut., 5 aut., 8 aut.); Parkinson's Disease and Movement Disorders Clinic/Ottawa, Ontario/Canada (1 aut., 2 aut., 6 aut.); Health Canada, Nutrition Research Division/Ottawa, Ontario/Canada (4 aut.); Department of Pathology and Laboratory Medicine, The Ottawa Hospital/Ottawa, Ontario/Canada (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 6; Pp. 1205-1212; Bibl. 32 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17G</CC>
<FD>Parkinson maladie; Corps Lewy; Liaison génétique; Etude familiale; Exploration; Homme; Canada; Canadien français; Parkine; α-Synucléine</FD>
<FG>Amérique du Nord; Amérique; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Génétique</FG>
<ED>Parkinson disease; Lewy body; Linkage; Family study; Exploration; Human; Canada; French canadian; Synuclein</ED>
<EG>North America; America; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetics</EG>
<SD>Parkinson enfermedad; Cuerpo Lewy; Ligamiento genético; Estudio familiar; Exploración; Hombre; Canada; Canadiense francés</SD>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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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

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