Please use this identifier to cite or link to this item:
Title: Adult-onset neuronopathic form of Gaucher's disease: a case report
Authors: Guimarães, J.
Amaral, O.
Sá Miranda, M.C.
Keywords: Doenças Genéticas
Gaucher’s disease
Atypical parkinsonism
Issue Date: Apr-2003
Publisher: Elsevier
Citation: Parkinsonism and Related Disorders 9 (2003) 261–264
Abstract: We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD. In this adult-onset form, an akinetic-rigid syndrome poorly responsive to dopatherapy, supranuclear gaze palsy, myoclonic jerks, seizures, cerebellar ataxia, cognitive and psychotic disturbances are frequent manifestations. The widely used clinical classification seems inadequate since it does not consider this rare form of GD. Until further understanding of the pathogenesis of the disease is achieved it is not possible to predict accurately which patients will or will not have late-onset nervous system involvement.
Peer review: yes
ISSN: 1353-8020
Publisher Version:
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:
File Description SizeFormat 
Adult-onset neuronopathic form of Gaucher's disease.pdf79,52 kBAdobe PDFView/Open    Request a copy

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.