MovDisordV3, PascalFrancis, Corpus, bibRecord, 000807

Clinical Expression of LRRK2 G2019S Mutations in the Elderly

Identifieur interne : 000807 ( PascalFrancis/Corpus ); précédent : 000806; suivant : 000808

Clinical Expression of LRRK2 G2019S Mutations in the Elderly

Auteurs : Marta San Luciano ; Richard B. Lipton ; CUILING WANG ; Mindy Katz ; Molly E. Zimmerman ; Amy E. Sanders ; Laurie J. Ozelius ; Susan B. Bressman ; Rachel Saunders-Pullman

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0512939

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Parkinsonisme, Pathologie du système nerveux, Mutation, Personne âgée, Porteur, Pénétrance génique, Cognition.

English descriptors

KwdEn :
- Carrier, Cognition, Elderly, Gene penetrance, Mutation, Nervous system diseases, Parkinson disease, Parkinsonism.

Abstract

Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C01	`01`		`ENG`	@0 Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.
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Format Inist (serveur)

NO :	PASCAL 10-0512939 INIST
ET :	Clinical Expression of LRRK2 G2019S Mutations in the Elderly
AU :	SAN LUCIANO (Marta); LIPTON (Richard B.); CUILING WANG; KATZ (Mindy); ZIMMERMAN (Molly E.); SANDERS (Amy E.); OZELIUS (Laurie J.); BRESSMAN (Susan B.); SAUNDERS-PULLMAN (Rachel)
AF :	Department of Neurology, Beth Israel Medical Center/New York, New York/Etats-Unis (1 aut., 8 aut., 9 aut.); Department of Neurology, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Epidemiology and Population Health, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (3 aut.); Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine/New York, New York/Etats-Unis (7 aut.); Department of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 15; Pp. 2571-2576; Bibl. 34 ref.
LA :	Anglais
EA :	Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Parkinsonisme; Pathologie du système nerveux; Mutation; Personne âgée; Porteur; Pénétrance génique; Cognition
FG :	Homme; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Parkinsonism; Nervous system diseases; Mutation; Elderly; Carrier; Gene penetrance; Cognition
EG :	Human; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Parkinson síndrome; Sistema nervioso patología; Mutación; Anciano; Portador; Penetrancia génica; Cognición
LO :	INIST-20953.354000191411680140
ID :	10-0512939

Links to Exploration step

Pascal:10-0512939

Le document en format XML

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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1>
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<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Gene penetrance</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Parkinsonisme</term>
<term>Pathologie du   système nerveux</term>
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<front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.</div>
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<server><NO>PASCAL 10-0512939 INIST</NO>
<ET>Clinical Expression of LRRK2 G2019S Mutations in the Elderly</ET>
<AU>SAN LUCIANO (Marta); LIPTON (Richard B.); CUILING WANG; KATZ (Mindy); ZIMMERMAN (Molly E.); SANDERS (Amy E.); OZELIUS (Laurie J.); BRESSMAN (Susan B.); SAUNDERS-PULLMAN (Rachel)</AU>
<AF>Department of Neurology, Beth Israel Medical Center/New York, New York/Etats-Unis (1 aut., 8 aut., 9 aut.); Department of Neurology, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Epidemiology and Population Health, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (3 aut.); Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine/New York, New York/Etats-Unis (7 aut.); Department of Neurology, Mount Sinai School of Medicine/New York, New York/Etats-Unis (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 15; Pp. 2571-2576; Bibl. 34 ref.</SO>
<LA>Anglais</LA>
<EA>Mutations in the leucine-rich repeat kinase 2 gene (LRRK2, PARK8) are the most commonly identified monogenic etiology of Parkinson disease (PD). Over-represented in the Ashkenazi Jewish population, these mutations are transmitted in an autosomal dominant manner with age-dependent reduced penetrance. The natural history and penetrance of these mutations in the elderly is controversial and inadequately studied. We conducted a nested cohort study in a community-based aging study (the Einstein Aging Study). Six elderly, initially nonmanifesting carriers (NMC) of the LRKK2 G2019S mutation were identified (average age 82.1 ± 7.0, range 72.7-90.8), and five had available longitudinal data. We matched five noncarrier controls to each NMC and followed them for an average of 4.7 years with annual cognitive and motor examinations. PD was identified in one NMC at age 95 and in no control subjects. The remaining carriers did not differ from controls on motor scores at baseline or follow-up. The baseline Unified Parkinson's Disease Rating Scale motor subscore (UPDRS-III) in cases was 6.2 ± 6.9 (range 1-19) and in controls was 4.5 ± 6.6 (1-30), P = 0.6; the mean difference in UPDRS-III slopes over time between cases and controls was 0.1 ± 1.3 and was not statistically significant. Our data, while limited by a small sample size, show that in LRKK2 G2019S mutation carriers, phenoconversion to PD can occur late in life. However, most NMC have motor decline which is indistinguishable from their age mates, suggesting that the larger subset of elderly NMC is not on the motor trajectory to disease.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Parkinsonisme; Pathologie du   système nerveux; Mutation; Personne âgée; Porteur; Pénétrance génique; Cognition</FD>
<FG>Homme; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinson disease; Parkinsonism; Nervous system diseases; Mutation; Elderly; Carrier; Gene penetrance; Cognition</ED>
<EG>Human; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Parkinson síndrome; Sistema nervioso patología; Mutación; Anciano; Portador; Penetrancia génica; Cognición</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical Expression of LRRK2 G2019S Mutations in the Elderly

Clinical Expression of LRRK2 G2019S Mutations in the Elderly

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