PLA2G6-associated late-onset parkinsonism in a Sudanese family.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51781
Abstract: INTRODUCTION The phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four neurological disorders with infantile, juvenile, or early adult-onset are associated with PLA2G6 genetic… read more here.
Keywords: onset parkinsonism; onset; parkinsonism; late onset ... See more keywords
Twin‐sisters with PLA2G6‐associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12925
Abstract: Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurodegenerative disorders of childhood characterized by progressive movement disorders and abnormal accumulation of iron in the basal ganglia. Among the NBIA genes, PLA2G6-associated… read more here.
Keywords: vitro fertilization; pla2g6 associated; neurodegeneration; plan ... See more keywords