SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy

Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia.We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17) in a patient with Parkinson's disease and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues.

Source: Parkinsonism and Related Disorders - April 1, 2020 Category: Neurology Authors: Giacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, Edoardo Monfrini, Letizia Straniero, Alberto Morini, Raffaella Di Giacopo, Daniela Frosini, Giovanni Palermo, Fabio Biella, Dario Ronchi, Stefano Duga, Franco Taroni, Stefania Corti, Giacomo P. Com Tags: Short communication Source Type: research