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) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.braindev.2016.02.010
  • Dergi Adı: Brain & development
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.755-8
  • Anahtar Kelimeler: Jaw-opening dystonia, Pantothenate kinase-associated neurodegeneration, PANK2, Compound heterozygousity, "Eye-of-the-tiger", KINASE-ASSOCIATED NEURODEGENERATION
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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.