Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia

BACKGROUND: Adult‐onset Nieman–Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. The diagnosis of NPC can be challenging as clinical features overlap with other more common hereditary ataxias....

Descripción completa

Detalles Bibliográficos
Autores principales: Vo, Mary L., Levy, Tess, Lakhani, Shenela, Wang, Chengbing, Ross, M. Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000929/
https://www.ncbi.nlm.nih.gov/pubmed/35192242
http://dx.doi.org/10.1002/mgg3.1906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000929/
https://www.ncbi.nlm.nih.gov/pubmed/35192242
http://dx.doi.org/10.1002/mgg3.1906

Ejemplares similares