Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study
Sign Up to like & getrecommendations! Published in 2019 at "Brain Pathology"
DOI: 10.1111/bpa.12640
Abstract: Alpers’ syndrome is an early‐onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase‐gamma (POLG) which is essential for mitochondrial DNA (mtDNA) replication. Alpers’ syndrome is characterized… read more here.
Keywords: study; pathology; neuropathological study; dissecting neuronal ... See more keywords
Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12833
Abstract: Alpers' syndrome is a severe neurodegenerative disease typically caused by bi‐allelic variants in the mitochondrial DNA (mtDNA) polymerase gene, POLG, leading to mtDNA depletion. Intractable epilepsy, often with an occipital focus, and extensive neurodegeneration are… read more here.
Keywords: delineating selective; vulnerability inhibitory; inhibitory; alpers syndrome ... See more keywords