Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease.

Biruté BurnytéRamune VilimieneKristina GrigalionienėIrina AdomaitieneAlgirdas Utkus

Published in: Neurology. Genetics (2023)

variants are involved in neurodegenerative mitochondrial disease. Compared with patients previously described, these patients' phenotype may be interpreted as a milder phenotype associated with a slight progression of ataxia throughout adulthood.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
early onset
depressive symptoms
oxidative stress
copy number
patient reported outcomes