A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Daniele SalaSilvia MarchetLorenzo NanettiAndrea LegatiCaterina MariottiEleonora LamanteaDaniele GhezziAlessia CataniaCostanza Lamperti

Published in: Orphanet journal of rare diseases (2024)

We describe a novel pathogenic mtDNA variant in MT-ATP6 associated with adult-onset ataxia, reinforcing the value of mtDNA screening within the diagnostic workflow of selected patients with late onset ataxias.

Keyphrases

late onset
early onset
end stage renal disease
mitochondrial dna
ejection fraction
copy number
chronic kidney disease
newly diagnosed
prognostic factors
gene expression
patient reported outcomes
electronic health record
cord blood