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Gaucher disease associated with parkinsonism: Four further case reports
Author(s) -
Várkonyi Judit,
Rosenbaum Hanna,
Baumann Nicole,
MacKenzie Jennifer J.,
Simon Zsuzsa,
AharonPeretz Judith,
Walker Jamie M.,
Tayebi Nahid,
Sidransky Ellen
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10028
Subject(s) - parkinsonism , parkin , disease , glucocerebrosidase , etiology , allele , medicine , phenotype , genotype , mutation , genetics , degenerative disease , age of onset , parkinson's disease , biology , gene , pathology
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.