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
Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early‐Onset Parkinsonism
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13283
Abstract: A 45-year-old woman came to our attention because of involuntary posturing of both of her feet when walking. She had a positive family history for ischemic heart disease (her father), chronic kidney disease leading twice… read more here.
Keywords: video; early onset; disease; onset parkinsonism ... See more keywords
Phenotypic evaluation of a childhood-onset parkinsonism-dystonia mouse model with inherent postural abnormalities
Sign Up to like & getrecommendations! Published in 2021 at "Brain Research Bulletin"
DOI: 10.1016/j.brainresbull.2020.10.018
Abstract: Mouse models that replicate facets of human neurological diseases are often used at the pre-clinical stage to better understand the underlying mechanisms of a disease and test the target engagement of potential therapeutic interventions. We… read more here.
Keywords: onset parkinsonism; parkinsonism dystonia; model; postural abnormalities ... See more keywords
Early-Onset Parkinsonism: Case Report and Review of the Literature.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2015.06.005
Abstract: BACKGROUND Early-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade of life, slow disease progression, resting tremor, rigidity,… read more here.
Keywords: onset parkinsonism; early onset; review; pink1 gene ... See more keywords
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac326
Abstract: Abstract The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein,… read more here.
Keywords: intellectual disability; ptpa; onset parkinsonism; parkinsonism intellectual ... See more keywords