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

İNCECİK F., Herguner O. M., BİŞGİN A.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.23, sa.6, ss.802-804, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4103/aian.aian_268_19
  • Dergi Adı: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Sayfa Sayıları: ss.802-804
  • Anahtar Kelimeler: Children, C19orf12 mutations, mitochondrial membrane protein-associated neurodegeneration, BRAIN IRON, C19ORF12, SUBTYPE
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.