Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies

Mutations in the both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide causes Gaucher Disease. However, multiple independent studies have also reported an association bet...

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Main Author: Maria Rosario Almeida
Format: Article
Language:English
Published: Frontiers Media S.A. 2012-04-01
Series:Frontiers in Neurology
Subjects:
Online Access:http://journal.frontiersin.org/Journal/10.3389/fneur.2012.00065/full
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spelling doaj-0292f8e7d8284d3680f2b30a5fb1ecf22020-11-24T23:57:33ZengFrontiers Media S.A.Frontiers in Neurology1664-22952012-04-01310.3389/fneur.2012.0006524209Glucocerebrosidase involvement in Parkinson Disease and other SynucleinopathiesMaria Rosario Almeida0Center for Neuroscience and Cell Biology, University of CoimbraMutations in the both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide causes Gaucher Disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in various cohorts of patients with parkinsonism and other Lewy body disorders. Furthermore, GBA mutation carriers exhibit diverse parkinsonian phenotypes and present a diffuse pattern of Lewy body distribution in the cerebral cortex. This review provides an overview of the genetic basis for this association in various diseases with dysfunction of the central nervous system in which affected individuals developed Parkinsonian symptoms. The emerging clinical, pathological and genetic studies in neuronal synucleinopathies suggest a common underlying mechanism in the etiology of these neurodegenerative disorders.http://journal.frontiersin.org/Journal/10.3389/fneur.2012.00065/fullParkinson Diseaseglucocerebrosidase geneLewy body pathologysynucleinopathies
collection DOAJ
language English
format Article
sources DOAJ
author Maria Rosario Almeida
spellingShingle Maria Rosario Almeida
Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
Frontiers in Neurology
Parkinson Disease
glucocerebrosidase gene
Lewy body pathology
synucleinopathies
author_facet Maria Rosario Almeida
author_sort Maria Rosario Almeida
title Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
title_short Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
title_full Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
title_fullStr Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
title_full_unstemmed Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
title_sort glucocerebrosidase involvement in parkinson disease and other synucleinopathies
publisher Frontiers Media S.A.
series Frontiers in Neurology
issn 1664-2295
publishDate 2012-04-01
description Mutations in the both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide causes Gaucher Disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in various cohorts of patients with parkinsonism and other Lewy body disorders. Furthermore, GBA mutation carriers exhibit diverse parkinsonian phenotypes and present a diffuse pattern of Lewy body distribution in the cerebral cortex. This review provides an overview of the genetic basis for this association in various diseases with dysfunction of the central nervous system in which affected individuals developed Parkinsonian symptoms. The emerging clinical, pathological and genetic studies in neuronal synucleinopathies suggest a common underlying mechanism in the etiology of these neurodegenerative disorders.
topic Parkinson Disease
glucocerebrosidase gene
Lewy body pathology
synucleinopathies
url http://journal.frontiersin.org/Journal/10.3389/fneur.2012.00065/full
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