A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

Main Article Content

Amir Hasan Habibi
Saeed Razmeh *
Omid Aryani
Mohammad Rohani
Laleh Taghavian
Elham Alizadeh
Karim Moradian Kokhedan
Maryam Zaribafian
(*) Corresponding Author:
Saeed Razmeh | srazmeh@yahoo.com

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.


Downloads month by month

Downloads

Download data is not yet available.

Article Details

Most read articles by the same author(s)