Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

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 by intractable epilepsy, developmental regression and liver failure which typically affects children aged 6 months-3 years. Although later onset variants are now recognized, they differ in that they are primarily an epileptic encephalopathy with ataxia. The disorder is progressive, without cure and inevitably leads to death from drug-resistant status epilepticus, often with concomitant liver failure. Since our understanding of the mechanisms contributing the neurological features in Alpers' syndrome is rudimentary, we pe

SUBMITTER: Hayhurst H 

PROVIDER: S-EPMC7379503 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature