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 alpha-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.
Várkonyi
Judit
J
3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
Rosenbaum
Hanna
H
Baumann
Nicole
N
MacKenzie
Jennifer J
JJ
Simon
Zsuzsa
Z
Aharon-Peretz
Judith
J
Walker
Jamie M
JM
Tayebi
Nahid
N
Sidransky
Ellen
E
D000483:Alleles; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases