A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration
| Autor: | Amir Hasan Habibi, Saeed Razmeh, Omid Aryani, Mohammad Rohani, Laleh Taghavian, Elham Alizadeh, Karim Moradian Kokhedan, Maryam Zaribafian |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Neurology International, Vol 11, Iss 1 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2035-8385 2035-8377 |
| DOI: | 10.4081/ni.2019.7959 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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