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Behavior, Cognition and Neuroscience
Volume 26, 2020 - Issue 3
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Review

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature

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Pages 175-182 | Received 27 May 2019, Accepted 16 Mar 2020, Published online: 20 Apr 2020
 

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.

Acknowledgments

PAN SI contributed to the writing and editing of this article

CHENKAI ZHU contributed to the collection review data about other reported cases.

Disclosure statement

There is no conflicts of interest and no sources of funding

Supplementary material

Supplemental data for this article can be accessed here.

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