The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
Identifieur interne : 000940 ( Main/Exploration ); précédent : 000939; suivant : 000941The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
Auteurs : John Depaolo [États-Unis] ; Ozlem Goker-Alpan [États-Unis] ; Ted Samaddar [États-Unis] ; Grisel Lopez [États-Unis] ; Ellen Sidransky [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
English descriptors
Abstract
A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (GBA), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, patients with GD who are homozygous for mutations in GBA have a higher than expected propensity to develop Parkinson's disease (PD). Furthermore, carriers of GBA mutations, particularly family members of patients with GD, have displayed an increased rate of parkinsonism. Subsequently, investigators from centers around the world screened cohorts of patients with parkinsonism for GBA mutations and found that overall, subjects with PD, as well as other Lewy body disorders, have at least a fivefold increase in the number of carriers of GBA mutations as compared to age‐matched controls. In addition, neuropathologic studies of subjects with parkinsonism carrying GBA mutations demonstrate Lewy bodies, depletion of neurons of the substantia nigra, and involvement of hippocampal layers CA2–4. Although the basis for this association has yet to be elucidated, evidence continues to support the role of GBA as a PD risk factor across different centers, synucleinopathies, and ethnicities. Further studies of the association between GD and parkinsonism will stimulate new insights into the pathophysiology of the two disorders and will prove crucial for both genetic counseling of patients and family members and the design of relevant therapeutic strategies for specific patients with parkinsonism. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22538
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-08-15">2009-08-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1571">1571</biblScope><biblScope unit="page" to="1578">1578</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">54EC329D3D762A8043A709EA6CCA2A1261C4CD6E</idno><idno type="DOI">10.1002/mds.22538</idno><idno type="ArticleID">MDS22538</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>glucocerebrosidase</term><term>parkinsonism</term><term>risk factor</term><term>synucleinopathies</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (GBA), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, patients with GD who are homozygous for mutations in GBA have a higher than expected propensity to develop Parkinson's disease (PD). Furthermore, carriers of GBA mutations, particularly family members of patients with GD, have displayed an increased rate of parkinsonism. Subsequently, investigators from centers around the world screened cohorts of patients with parkinsonism for GBA mutations and found that overall, subjects with PD, as well as other Lewy body disorders, have at least a fivefold increase in the number of carriers of GBA mutations as compared to age‐matched controls. In addition, neuropathologic studies of subjects with parkinsonism carrying GBA mutations demonstrate Lewy bodies, depletion of neurons of the substantia nigra, and involvement of hippocampal layers CA2–4. Although the basis for this association has yet to be elucidated, evidence continues to support the role of GBA as a PD risk factor across different centers, synucleinopathies, and ethnicities. Further studies of the association between GD and parkinsonism will stimulate new insights into the pathophysiology of the two disorders and will prove crucial for both genetic counseling of patients and family members and the design of relevant therapeutic strategies for specific patients with parkinsonism. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Depaolo, John" sort="Depaolo, John" uniqKey="Depaolo J" first="John" last="Depaolo">John Depaolo</name></region><name sortKey="Goker Lpan, Ozlem" sort="Goker Lpan, Ozlem" uniqKey="Goker Lpan O" first="Ozlem" last="Goker-Alpan">Ozlem Goker-Alpan</name><name sortKey="Lopez, Grisel" sort="Lopez, Grisel" uniqKey="Lopez G" first="Grisel" last="Lopez">Grisel Lopez</name><name sortKey="Samaddar, Ted" sort="Samaddar, Ted" uniqKey="Samaddar T" first="Ted" last="Samaddar">Ted Samaddar</name><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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