Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Gaucher disease associated with parkinsonism: Four further case reports

Gaucher disease associated with parkinsonism: Four further case reports Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Gaucher disease associated with parkinsonism: Four further case reports

Download PDF
4 pages

Loading next page...
 
/lp/wiley/gaucher-disease-associated-with-parkinsonism-four-further-case-reports-yPDHyYwRm1

References (24)

Publisher
Wiley
Copyright
Copyright © 2003 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.10028
pmid
12522789
Publisher site
See Article on Publisher Site

Abstract

Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Jan 1, 2003

Keywords: ; ; ;

There are no references for this article.