A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy

Hexanucleotide repeat expansions in C9orf72 account for a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. There have been occasional reported cases associated with this expansion but also additional extrapyramidal clinical features. However, on...

Descripción completa

Detalles Bibliográficos
Autores principales: King, Andrew, Lee, Yuan Kai, Jones, Shalmai, Troakes, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541494/
https://www.ncbi.nlm.nih.gov/pubmed/35746899
http://dx.doi.org/10.1111/neup.12808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541494/
https://www.ncbi.nlm.nih.gov/pubmed/35746899
http://dx.doi.org/10.1111/neup.12808

Ejemplares similares