Amantadine Treatment for Hyperkinetic Movements in Chorea‐Acanthocytosis
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13623
Abstract: A 38-year-old Caucasian female presented with 2 years of progressive involuntary movements, dysarthria, sialorrhea, dysphagia, gait impairment, and restlessness. She denied prior use of neuroleptics. Levodopa (400 mg/day), glycopyrrolate, pro-pranolol (40 mg/day), clonazepam (2 mg/day),… read more here.
Keywords: day; treatment hyperkinetic; hyperkinetic movements; amantadine treatment ... See more keywords
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
Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients
Sign Up to like & getrecommendations! Published in 2017 at "Cellular Physiology and Biochemistry"
DOI: 10.1159/000479901
Abstract: Background: The widely expressed protein chorein fosters activation of the phosphoinositide 3 kinase (PI3K) pathway thus supporting cell survival. Loss of function mutations of the chorein encoding gene VPS13A (vacuolar protein sorting-associated protein 13A) causes… read more here.
Keywords: store operated; chorea acanthocytosis; apoptosis; ca2 ... See more keywords
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00594
Abstract: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of… read more here.
Keywords: mode; chorea acanthocytosis; inheritance; inheritance mode ... See more keywords
The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib
Sign Up to like & getrecommendations! Published in 2021 at "Biomolecules"
DOI: 10.3390/biom11050727
Abstract: Background: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease with deformed red blood cells (RBCs), so-called acanthocytes, as a typical marker of the disease. Erythrocyte sedimentation rate (ESR) was recently proposed as a diagnostic biomarker.… read more here.
Keywords: red blood; hematology; chorea acanthocytosis; treatment ... See more keywords
Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm11050392
Abstract: Background: Chorea-acanthocytosis (ChAc) is a neurodegenerative disease caused by mutations in the VPS13A gene. It is characterized by several neurological symptoms and the appearance of acanthocytes. Elevated tyrosine kinase Lyn activity has been recently identified… read more here.
Keywords: chorea acanthocytosis; lyn kinase; kinase; disease ... See more keywords