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

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• 作者：Zuhal Yapici^a ; ¹ ; ^{yapicizuhal@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Nihan Hande Akcakaya^b ; ¹ ; Pinar Tekturk^a ; Sibel Aylin Ugur Iseri^b ; Ugur Ozbek^b
• 关键词：Jaw-opening dystonia ; Pantothenate kinase-associated neurodegeneration ; PANK2 ; Compound heterozygousity ; &ldquo ; Eye-of-the-tiger&rdquo
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：38
• 期：8
• 页码：755-758
• 全文大小：666 K

文摘

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.