Neurological involvement in type 1 (adult) Gaucher's disease.
A case of type 1 (adult) Gaucher's disease with a late onset tapeto-retinal degeneration and an initially dopamine responsive extrapyramidal syndrome is described. The literature reporting neurological involvement in type 1 Gaucher's disease is reviewed, and it is concluded that the absence of symptoms and signs of nervous system involvement cannot be used as the sole basis for the classification of this type of Gaucher's disease.
D001480:Basal Ganglia Diseases / Q000209:etiology; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008875:Middle Aged; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology