Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/304

Título: Adult-onset neuronopathic form of Gaucher's disease: a case report
Autor: Guimarães, J.
Amaral, O.
Sá Miranda, M.C.
Palavras-chave: Doenças Genéticas
Gaucher’s disease
Adult
Parkinsonism
Atypical parkinsonism
Issue Date: Apr-2003
Editora: Elsevier
Citação: Parkinsonism and Related Disorders 9 (2003) 261–264
Resumo: 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.
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/304
ISSN: 1353-8020
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S1353802002000962
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
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

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

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência  Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE