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PMID: 19332698 Published · ppublish English Case Reports Journal Article Review

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.

Neurology ·Vol. 72 ·No. 13 ·2009-03-31 ·Pages 1185-6

Segarane B, Li A, Paudel R, Scholz S, Neumann J, Lees A, Revesz T, Hardy J, Mathias CJ, Wood NW, Holton J, Houlden H

Abstract

暂无摘要

MeSH Terms

Adult Aged Aged, 80 and over Female Glucosylceramidase/genetics,physiology Humans Middle Aged Multiple System Atrophy/diagnosis,enzymology,genetics,pathology Mutation/genetics Neurons/enzymology,pathology Signal Transduction/genetics alpha-Synuclein/genetics,metabolism

Chemicals

alpha-Synuclein Glucosylceramidase

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Segarane B

Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, UK WC1N 3BG.

Li A

Paudel R

Scholz S

Neumann J

Lees A

Revesz T

Hardy J

Mathias C J

Wood N W

Holton J

Houlden H

References (7)

7 references, click to expand

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Neurology. 2006 Sep 12;67(5):908-10 PMID: 16790605
Glucocerebrosidase mutations in subjects with parkinsonism.
Mol Genet Metab. 2004 Jan;81(1):70-3 PMID: 14728994
Widespread alterations of alpha-synuclein in multiple system atrophy.
Am J Pathol. 1999 Oct;155(4):1241-51 PMID: 10514406
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Clin Genet. 2006 Oct;70(4):275-82 PMID: 16965318
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Hum Mutat. 2000;15(2):181-8 PMID: 10649495
The role of alpha-synuclein in the pathogenesis of multiple system atrophy.
Acta Neuropathol. 2005 Feb;109(2):129-40 PMID: 15666181
The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations.
Brain. 2004 Dec;127(Pt 12):2657-71 PMID: 15509623

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

1526-632X

DOI

10.1212/01.wnl.0000345356.40399.eb

Published

2009-03-31

Pages

1185-6

Language

English

Region

United States

NLM ID

0401060

PMCID

PMC2824516

Subset

Grants

Parkinson's UK · G-0907 · United Kingdom

Medical Research Council · G0701075 · United Kingdom

Medical Research Council · G108/638 · United Kingdom

Medical Research Council · MC_G0901330 · United Kingdom

External Links

PubMed source DOI: 10.1212/01.wnl.0000345356.40399.eb PMC Full Text View journal details

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Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.

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