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Neurology International
Volume 11
Issue 1
10.4081/ni.2019.7959
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Neurology International is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration

by
Amir Hasan Habibi
1,
Saeed Razmeh
2,*,
Omid Aryani
1,
Mohammad Rohani
1,
Laleh Taghavian
2,
Elham Alizadeh
2,
Karim Moradian Kokhedan
2 and
Maryam Zaribafian
1
1
Iran University of Medical Sciences, Tehran, Iran
2
Yasuj University of Medical Sciences, Yasuj, Iran
*
Author to whom correspondence should be addressed.
Neurol. Int. 2019, 11(1), 7959; https://doi.org/10.4081/ni.2019.7959
Submission received: 30 November 2018 / Revised: 30 November 2018 / Accepted: 14 January 2019 / Published: 11 March 2019

Abstract

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.
Keywords: Pantothenate Kinase-associated Neurodegeneration; novel variation; pantothenate kinase-2 gene Pantothenate Kinase-associated Neurodegeneration; novel variation; pantothenate kinase-2 gene

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MDPI and ACS Style

Habibi, A.H.; Razmeh, S.; Aryani, O.; Rohani, M.; Taghavian, L.; Alizadeh, E.; Moradian Kokhedan, K.; Zaribafian, M. A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration. Neurol. Int. 2019, 11, 7959. https://doi.org/10.4081/ni.2019.7959

AMA Style

Habibi AH, Razmeh S, Aryani O, Rohani M, Taghavian L, Alizadeh E, Moradian Kokhedan K, Zaribafian M. A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration. Neurology International. 2019; 11(1):7959. https://doi.org/10.4081/ni.2019.7959

Chicago/Turabian Style

Habibi, Amir Hasan, Saeed Razmeh, Omid Aryani, Mohammad Rohani, Laleh Taghavian, Elham Alizadeh, Karim Moradian Kokhedan, and Maryam Zaribafian. 2019. "A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration" Neurology International 11, no. 1: 7959. https://doi.org/10.4081/ni.2019.7959

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