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Article

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

Parkinsonism & related disorders - 1 May 2020

Bitetto Giacomo, Malaguti Maria Chiara, Ceravolo Roberto, Monfrini Edoardo, Straniero Letizia, Morini Alberto, Di Giacopo Raffaella, Frosini Daniela, Palermo Giovanni, Biella Fabio, Ronchi Dario, Duga Stefano, Taroni Franco, Corti Stefania, Comi Giacomo P, Bresolin Nereo, Giometto Bruno, Di Fonzo Alessio

Abstract excerpt

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...

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Identifiers

PMID: 32259769
DOI: 10.1016/j.parkreldis.2020.03.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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