title: Occurrence of Parkinson's syndrome in type I Gaucher disease.
abstract: Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.
authors.affiliation: Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Neudorfer
authors.forename: N
authors.initials: N
authors.lastname: Giladi
authors.forename: D
authors.initials: D
authors.lastname: Elstein
authors.forename: A
authors.initials: A
authors.lastname: Abrahamov
authors.forename: T
authors.initials: T
authors.lastname: Turezkite
authors.forename: E
authors.initials: E
authors.lastname: Aghai
authors.forename: A
authors.initials: A
authors.lastname: Reches
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: A
authors.initials: A
authors.lastname: Zimran
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000978:Antiparkinson Agents / Q000627:therapeutic use; D004351:Drug Resistance; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000208:ethnology; D006801:Humans; D007585:Jews; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000150:complications* / Q000188:drug therapy
chemical_list: D000978:Antiparkinson Agents