title: Niemann-Pick's and Gaucher's diseases.
abstract: A short account is presented of the evolution of knowledge concerning Niemann-Pick's and Gaucher's diseases, two autosomal recessive genetic disturbances of lysosomal storage function. This culminated in the intriguing realisation, arising from mounting clinical and molecular evidence, that glucocerebrosidase mutations constitute the most common risk factor for Parkinson's disease identified to date.
authors.affiliation: Emeritus consultant neurologist University College Hospitals, London, UK. Electronic address: geraldsterniii@gmail.com.
authors.forename: Gerald
authors.initials: G
authors.lastname: Stern
mesh_terms: D005776:Gaucher Disease / Q000235:genetics / Q000266:history / Q000378:metabolism; D005962:Glucosylceramidase / Q000235:genetics; D049673:History, 20th Century; D006801:Humans; D009154:Mutation / Q000235:genetics; D009542:Niemann-Pick Diseases / Q000235:genetics / Q000266:history / Q000378:metabolism
chemical_list: D005962:Glucosylceramidase
keywords: Clinical and molecular features; Enzyme replacement therapy; Glucocerebrosidase mutations and Parkinson's disease; Lysosomal storage disease; Niemann–Pick's and Gaucher's diseases