Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

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Akcakaya N. H. , Haryanyan G., Mercan S., Sozer N., Ali A., Tombul T., ...More

NEUROLOGIA I NEUROCHIRURGIA POLSKA, vol.53, no.6, pp.476-483, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 6
  • Publication Date: 2019
  • Doi Number: 10.5603/pjnns.a2019.0062
  • Page Numbers: pp.476-483
  • Keywords: MPAN, C19orf12, SPG43, iron accumulation, spastic paraplegia, HSP, C19ORF12, NEURODEGENERATION, MUTATION, PROTEIN, FEATURES, SUBTYPE


Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants.