title: Gaucher's disease with Parkinson's disease: clinical and pathological aspects.
abstract: The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.
authors.affiliation: Unità Operativa Dipartimentale di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Italy. bembi@burlo.trieste.it
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: S
authors.initials: S
authors.lastname: Zambito Marsala
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
authors.forename: G
authors.initials: G
authors.lastname: Ciana
authors.forename: M
authors.initials: M
authors.lastname: Carrozzi
authors.forename: M
authors.initials: M
authors.lastname: Zorzon
authors.forename: C
authors.initials: C
authors.lastname: Martini
authors.forename: M
authors.initials: M
authors.lastname: Gioulis
authors.forename: M G
authors.initials: MG
authors.lastname: Pittis
authors.forename: L
authors.initials: L
authors.lastname: Capus
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000740:Anemia / Q000209:etiology; D000978:Antiparkinson Agents / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004351:Drug Resistance; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005962:Glucosylceramidase / Q000235:genetics / Q000627:therapeutic use; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000209:etiology; D010300:Parkinson Disease / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D011994:Recombinant Proteins / Q000627:therapeutic use; D035781:Siblings; D013163:Splenomegaly / Q000209:etiology; D013921:Thrombocytopenia / Q000209:etiology; D014202:Tremor / Q000209:etiology
chemical_list: D000978:Antiparkinson Agents; D011994:Recombinant Proteins; D007980:Levodopa; D005962:Glucosylceramidase; C090568:imiglucerase