Movement Disorders (revue)

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The Neuropathology of Genetic Parkinson’s Disease

Identifieur interne : 003607 ( Ncbi/Merge ); précédent : 003606; suivant : 003608

The Neuropathology of Genetic Parkinson’s Disease

Auteurs : M. Poulopoulos [États-Unis] ; Oa Levy [États-Unis] ; Rn Alcalay [États-Unis]

Source :

RBID : PMC:3383342

English descriptors

Abstract

Background

Pathological data from autopsies genotyped for 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.

Methods

A systematic review of the English literature using the terms “Parkinson’s disease”, “brain pathology”, “autopsy”, and the specific gene nomenclature, and any combination of the above.

Results

Most studies included reports of convenience samples, either cases that were pre-identified as mutation carriers before autopsy, or screens of Lewy body brain banks. Nineteen autopsies of alpha-synuclein mutation carriers, 49 of LRRK2 mutation carriers, 9 of Parkin mutation carriers, one of PINK1 mutation carrier and 90 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, non-manifesting mutation carriers (e.g., of LRRK2 mutations), and carriers of a single Parkin mutation were lacking.

Discussion

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.


Url:
DOI: 10.1002/mds.24962
PubMed: 22451330
PubMed Central: 3383342

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PMC:3383342

Le document en format XML

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<p id="P2">Pathological data from autopsies genotyped for PD-related mutations in
<italic>alpha-synuclein, Parkin, PINK1, DJ1, LRRK2</italic>
and
<italic>glucocerebrosidase</italic>
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.</p>
</sec>
<sec id="S2">
<title>Methods</title>
<p id="P3">A systematic review of the English literature using the terms “Parkinson’s disease”, “brain pathology”, “autopsy”, and the specific gene nomenclature, and any combination of the above.</p>
</sec>
<sec id="S3">
<title>Results</title>
<p id="P4">Most studies included reports of convenience samples, either cases that were pre-identified as mutation carriers before autopsy, or screens of Lewy body brain banks. Nineteen autopsies of
<italic>alpha-synuclein</italic>
mutation carriers, 49 of
<italic>LRRK2</italic>
mutation carriers, 9 of
<italic>Parkin</italic>
mutation carriers, one of
<italic>PINK1</italic>
mutation carrier and 90 of
<italic>glucocerebrosidase</italic>
mutation carriers were identified. Most autopsies of
<italic>alpha-synuclein</italic>
,
<italic>LRRK2</italic>
G2019S and
<italic>glucocerebrosidase</italic>
mutation carriers demonstrated Lewy body pathology as opposed to
<italic>Parkin</italic>
and
<italic>LRRK2</italic>
non-G2019S mutation carriers. However, there was a marked variability in pathological findings even among carriers of identical mutations. Pathological data from
<italic>DJ1</italic>
mutation carriers, non-manifesting mutation carriers (e.g., of
<italic>LRRK2</italic>
mutations), and carriers of a single
<italic>Parkin</italic>
mutation were lacking.</p>
</sec>
<sec id="S4">
<title>Discussion</title>
<p id="P5">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.</p>
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<term>Animals</term>
<term>Brain (pathology)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Mutation (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en">
<term>Brain</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Animals</term>
<term>Humans</term>
</keywords>
</textClass>
</profileDesc>
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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>
</front>
</TEI>
</pubmed>
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