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

作者：Yapici Zuhal^*; Akcakaya Nihan Hande; Tekturk Pinar; Iseri Sibel Aylin Ugur; Ozbek Ugur

来源：Brain & Development, 2016, 38(8): 755-758.

DOI：10.1016/j.braindev.2016.02.010

• Jaw-opening dystonia
• Pantothenate kinase-associated neurodegeneration
• PANK2
• Compound heterozygousity
• " Eye-of-the-tiger&quot

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.
We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment.
Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed.

• 出版日期2016-9