Parkinson disease in Gaucher disease

BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that develope...

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Detalles Bibliográficos
Autores principales: Rodriguez-Porcel, Federico, Espay, Alberto J., Carecchio, Miryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440911/
https://www.ncbi.nlm.nih.gov/pubmed/28546865
http://dx.doi.org/10.1186/s40734-017-0054-2
Descripción
Sumario:BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40734-017-0054-2) contains supplementary material, which is available to authorized users.

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