Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature. Issue 3 (3rd May 2020)

• Record Type: Journal Article
• Authors: Pan, Si; Zhu, Chenkai
• Is Part Of: Neurocase. Volume 26:Issue 3(2020)
• Page Start: 175
• Page End: 182
• Publication Date: 2020-05-03
• Subjects: Pantothenate Kinase-Associated Neurodegeneration (PKAN) -- PANK2 mutation -- eye-of-the-tiger sign -- tremor -- globus pallidus; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2020.1752739
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: Panthothenate kinase-associated neurodegeneration (PKAN) is arare neurodegeneration caused by mutations in the pantothenate kinase ( PANK2 ) gene, which is located on chromosome 20p13. These mutations result in iron accumulation in the brain basal ganglia leading to parkinsonism, dysarthria, spasticity, cognitive impairment, and retinopathy. Herein, we report acase of adult-onset PKAN who presented with young-onset action tremor, bradykinesia, dysarthria, and bilateral interossei atrophy. Neuroimaging demonstrated "eye-of-the-tiger signs". Through analyzing PANK2 gene, PANK2 NM_153638:c.1133A>G (p.Asp378 Gly) and PANK2 NM_153638:c.1502 T > A (p.lle501Asn), were detected. In addition, we reviewed the clinical and genetic features and therapeutic strategies for patients with PKAN.