New pathogenic mutation of chorea-acanthocytosis.
Sign Up to like & getrecommendations! Published in 2018 at "Neurologia"
DOI: 10.1016/j.nrl.2018.03.012
Abstract: Chorea-acanthocytosis (ChA) is an autosomal recessive disease caused by a mutation in the VPS13A gene, located on chromosome 9q21 and coding for the protein chorein. Chorein is a protein of 3000 amino acids, involved in… read more here.
Keywords: pathogenic mutation; chorea acanthocytosis; acanthocytosis; new pathogenic ... See more keywords
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006320
Abstract: Biallelic mutations in the elaC ribonuclease Z 2 (ELAC2) gene cause a rare mitochondrial disease, the main features of which are hypertrophic cardiomyopathy, delayed psychomotor development, and usually death during childhood.1 Only 20 families have… read more here.
Keywords: psychosis acanthocytosis; prolonged survival; acanthocytosis prolonged; chorea psychosis ... See more keywords
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.01168
Abstract: Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission.… read more here.
Keywords: epilepsy; vps13a; family; autosomal recessive ... See more keywords