Article
Gaucher disease associated with parkinsonism: four further case reports.
American journal of medical genetics. Part A - 1 Feb 2003
Várkonyi Judit, Rosenbaum Hanna, Baumann Nicole, MacKenzie Jennifer J, Simon Zsuzsa, Aharon-Peretz Judith, Walker Jamie M, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
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,...
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