Clinical characteristicsInfantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
Replication of the mammalian mitochondrial DNA (mtDNA) is dependent on the minimal replisome, consisting of the heterotrimeric mtDNA polymerase (POLG), the hexameric DNA helicase TWINKLE and the tetrameric single-stranded DNA-binding protein (mtSSB). TWINKLE has been shown to unwind DNA during
Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations
MtDNA depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders characterized by low mtDNA levels in specific tissues. Mitochondrial diseases are often relentlessly progressive with high morbidity and mortality. Clinical diversity and genetic heterogeneity of
Mitochondrial ECHS1 Deficiency (by Rebecca Ganetzky MD)
Clinical characteristics. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms.