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, ss.755-758, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 38 Konu: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.braindev.2016.02.010
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Sayfa Sayısı: ss.755-758

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.