The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Olgiati S., DOĞU O., Tufekcioglu Z., Diler Y., SAKA TOPÇUOĞLU E., GÜLTEKİN M., ...More

PARKINSONISM & RELATED DISORDERS, vol.39, pp.64-70, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39
  • Publication Date: 2017
  • Doi Number: 10.1016/j.parkreldis.2017.03.012
  • Journal Name: PARKINSONISM & RELATED DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.64-70
  • Keywords: MPAN, C19orf12, Mutation, Neurodegeneration, Iron accumulation, Parkinsonism, BRAIN IRON ACCUMULATION, PROTEIN-ASSOCIATED NEURODEGENERATION, MITOCHONDRIAL PROTEIN, TIGER SIGN, FEATURES, SUBTYPE, EYE
  • Hacettepe University Affiliated: Yes

Abstract

Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported.