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., ...Daha Fazla

NEUROLOGIA I NEUROCHIRURGIA POLSKA, cilt.53, sa.6, ss.476-483, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 6
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5603/pjnns.a2019.0062
  • Dergi Adı: NEUROLOGIA I NEUROCHIRURGIA POLSKA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.476-483
  • Anahtar Kelimeler: MPAN, C19orf12, SPG43, iron accumulation, spastic paraplegia, HSP, C19ORF12, NEURODEGENERATION, MUTATION, PROTEIN, FEATURES, SUBTYPE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.