MovDisordV3, PascalFrancis, Corpus, bibRecord, 000164

The Neuropathology of Genetic Parkinson's Disease

Identifieur interne : 000164 ( PascalFrancis/Corpus ); précédent : 000163; suivant : 000165

The Neuropathology of Genetic Parkinson's Disease

Auteurs : Markos Poulopoulos ; Oren A. Levy ; Roy N. Alcalay

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0280027

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Maladie héréditaire, Parkine, Autopsie.

English descriptors

KwdEn :
- Autopsy, Genetic disease, Nervous system diseases, Parkin, Parkinson disease.

Abstract

Pathological data from autopsies genotyped for Parkinson's disease (PD)-related mutations in alpha-synuclein, Parkin, PINK1, DJ1, LRRK2, and glucocerebrosidase have accumulated in recent years. The aim of this review is to systematically review all pathological reports of mutation carriers and to identify pathological patterns and gaps in the currently available data. A systematic review of the English literature was done using the terms "Parkinson's disease," "brain pathology," "autopsy," the specific gene nomenclature, and any combination of the above. Most studies included reports of convenience samples: either cases that were preidentified as mutation carriers before autopsy or screens of Lewy body brain banks. Nineteen autopsies of alpha-synuclein mutation carriers, 49 of LRRK2 mutation carriers, nine of Parkin mutation carriers, one of a PINK1 mutation carrier, and 86 of glucocerebrosidase mutation carriers were identified. Most autopsies of alpha-synuclein, LRRK2 G2019S, and glucocerebrosidase mutation carriers demonstrated Lewy body pathology, as opposed to Parkin and LRRK2 non-G2019S mutation carriers. However, there was a marked variability in pathological findings, even among carriers of identical mutations. Pathological data from DJ1 mutation carriers, nonmanifesting mutation carriers (e.g., of LRRK2 mutations), and carriers of a single Parkin mutation were lacking. In gathering together all studies of PD autopsies with an identified genetic risk, this review highlights the wealth of information generated as well as shortcomings in the available data. In particular, there is a need for larger, unbiased pathological studies. Differential association of Lewy pathology with specific mutations may reflect heterogeneity in pathogenic mechanisms among the different PD-related genes.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
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Format Inist (serveur)

NO :	PASCAL 12-0280027 INIST
ET :	The Neuropathology of Genetic Parkinson's Disease
AU :	POULOPOULOS (Markos); LEVY (Oren A.); ALCALAY (Roy N.)
AF :	Department of Neurology, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut., 2 aut., 3 aut.); Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (3 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 7; Pp. 831-842; Bibl. 111 ref.
LA :	Anglais
EA :	Pathological data from autopsies genotyped for Parkinson's disease (PD)-related mutations in alpha-synuclein, Parkin, PINK1, DJ1, LRRK2, and glucocerebrosidase have accumulated in recent years. The aim of this review is to systematically review all pathological reports of mutation carriers and to identify pathological patterns and gaps in the currently available data. A systematic review of the English literature was done using the terms "Parkinson's disease," "brain pathology," "autopsy," the specific gene nomenclature, and any combination of the above. Most studies included reports of convenience samples: either cases that were preidentified as mutation carriers before autopsy or screens of Lewy body brain banks. Nineteen autopsies of alpha-synuclein mutation carriers, 49 of LRRK2 mutation carriers, nine of Parkin mutation carriers, one of a PINK1 mutation carrier, and 86 of glucocerebrosidase mutation carriers were identified. Most autopsies of alpha-synuclein, LRRK2 G2019S, and glucocerebrosidase mutation carriers demonstrated Lewy body pathology, as opposed to Parkin and LRRK2 non-G2019S mutation carriers. However, there was a marked variability in pathological findings, even among carriers of identical mutations. Pathological data from DJ1 mutation carriers, nonmanifesting mutation carriers (e.g., of LRRK2 mutations), and carriers of a single Parkin mutation were lacking. In gathering together all studies of PD autopsies with an identified genetic risk, this review highlights the wealth of information generated as well as shortcomings in the available data. In particular, there is a need for larger, unbiased pathological studies. Differential association of Lewy pathology with specific mutations may reflect heterogeneity in pathogenic mechanisms among the different PD-related genes.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Maladie héréditaire; Parkine; Autopsie
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Genetic disease; Parkin; Autopsy
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Enfermedad hereditaria; Parkin; Autopsia
LO :	INIST-20953.354000508307110050
ID :	12-0280027

Links to Exploration step

Pascal:12-0280027

Le document en format XML

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<front><div type="abstract" xml:lang="en">Pathological data from autopsies genotyped for Parkinson's disease (PD)-related mutations in alpha-synuclein, Parkin, PINK1, DJ1, LRRK2, and glucocerebrosidase have accumulated in recent years. The aim of this review is to systematically review all pathological reports of mutation carriers and to identify pathological patterns and gaps in the currently available data. A systematic review of the English literature was done using the terms "Parkinson's disease," "brain pathology," "autopsy," the specific gene nomenclature, and any combination of the above. Most studies included reports of convenience samples: either cases that were preidentified as mutation carriers before autopsy or screens of Lewy body brain banks. Nineteen autopsies of alpha-synuclein mutation carriers, 49 of LRRK2 mutation carriers, nine of Parkin mutation carriers, one of a PINK1 mutation carrier, and 86 of glucocerebrosidase mutation carriers were identified. Most autopsies of alpha-synuclein, LRRK2 G2019S, and glucocerebrosidase mutation carriers demonstrated Lewy body pathology, as opposed to Parkin and LRRK2 non-G2019S mutation carriers. However, there was a marked variability in pathological findings, even among carriers of identical mutations. Pathological data from DJ1 mutation carriers, nonmanifesting mutation carriers (e.g., of LRRK2 mutations), and carriers of a single Parkin mutation were lacking. In gathering together all studies of PD autopsies with an identified genetic risk, this review highlights the wealth of information generated as well as shortcomings in the available data. In particular, there is a need for larger, unbiased pathological studies. Differential association of Lewy pathology with specific mutations may reflect heterogeneity in pathogenic mechanisms among the different PD-related genes.</div>
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<server><NO>PASCAL 12-0280027 INIST</NO>
<ET>The Neuropathology of Genetic Parkinson's Disease</ET>
<AU>POULOPOULOS (Markos); LEVY (Oren A.); ALCALAY (Roy N.)</AU>
<AF>Department of Neurology, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut., 2 aut., 3 aut.); Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 7; Pp. 831-842; Bibl. 111 ref.</SO>
<LA>Anglais</LA>
<EA>Pathological data from autopsies genotyped for Parkinson's disease (PD)-related mutations in alpha-synuclein, Parkin, PINK1, DJ1, LRRK2, and glucocerebrosidase have accumulated in recent years. The aim of this review is to systematically review all pathological reports of mutation carriers and to identify pathological patterns and gaps in the currently available data. A systematic review of the English literature was done using the terms "Parkinson's disease," "brain pathology," "autopsy," the specific gene nomenclature, and any combination of the above. Most studies included reports of convenience samples: either cases that were preidentified as mutation carriers before autopsy or screens of Lewy body brain banks. Nineteen autopsies of alpha-synuclein mutation carriers, 49 of LRRK2 mutation carriers, nine of Parkin mutation carriers, one of a PINK1 mutation carrier, and 86 of glucocerebrosidase mutation carriers were identified. Most autopsies of alpha-synuclein, LRRK2 G2019S, and glucocerebrosidase mutation carriers demonstrated Lewy body pathology, as opposed to Parkin and LRRK2 non-G2019S mutation carriers. However, there was a marked variability in pathological findings, even among carriers of identical mutations. Pathological data from DJ1 mutation carriers, nonmanifesting mutation carriers (e.g., of LRRK2 mutations), and carriers of a single Parkin mutation were lacking. In gathering together all studies of PD autopsies with an identified genetic risk, this review highlights the wealth of information generated as well as shortcomings in the available data. In particular, there is a need for larger, unbiased pathological studies. Differential association of Lewy pathology with specific mutations may reflect heterogeneity in pathogenic mechanisms among the different PD-related genes.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Maladie héréditaire; Parkine; Autopsie</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Genetic disease; Parkin; Autopsy</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Enfermedad hereditaria; Parkin; Autopsia</SD>
<LO>INIST-20953.354000508307110050</LO>
<ID>12-0280027</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The Neuropathology of Genetic Parkinson's Disease

The Neuropathology of Genetic Parkinson's Disease

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