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Adult-onset neuronopathic form of Gaucher's disease: a case report
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Autores
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Gaucher’s disease Parkinsonism Atypical parkinsonism Adult Doenças Genéticas
Contexto Educativo
Citação
Parkinsonism Relat Disord. 2003 Jun;9(5):261-4. doi: 10.1016/s1353-8020(02)00096-2
Editora
Elsevier/ World Federation of Neurology Research Group on Parkinsonism and Related Disorders