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

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. Comi, Nereo Bresolin, Bruno Giometto, Alessio Di Fonzo

Research output: Contribution to journalArticlepeer-review


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. These findings suggest for the first time a possible link between Parkinson's Disease and SLC25A46 mutations. Replication in additional studies is needed to conclusively prove this link.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalParkinsonism and Related Disorders
Publication statusPublished - May 2020

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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