Mitochondria Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children


İNCECİK F. , Herguner O. M. , BİŞGİN A.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, vol.23, no.6, pp.802-804, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.4103/aian.aian_268_19
  • Title of Journal : ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Page Numbers: pp.802-804

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramicial syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.ThrllMet mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous.