A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.


Yapici Z., Akcakaya N. H. , Tekturk P., Iseri S. A. U. , Ozbek U.

Brain & development, cilt.38, sa.8, ss.755-8, 2016 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Konu: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.braindev.2016.02.010
  • Dergi Adı: Brain & development
  • Sayfa Sayıları: ss.755-8

Özet

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible.