A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration
| Autor: | Karim Moradian Kokhedan, Amir Hasan Habibi, Maryam Zaribafian, Saeed Razmeh, Omid Aryani, Laleh Taghavian, Mohammad Rohani, Elham Alizadeh |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
lcsh:Internal medicine
lcsh:Medicine Case Report Disease Bioinformatics Pantothenate kinase-associated neurodegeneration lcsh:RC321-571 Pathogenesis 03 medical and health sciences 0302 clinical medicine pantothenate kinase-2 gene medicine 030212 general & internal medicine lcsh:RC31-1245 Pantothenate Kinase-associated Neurodegeneration lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Dystonia novel variation business.industry Parkinsonism lcsh:R Neurodegeneration medicine.disease PANK2 nervous system diseases Neurology (clinical) business 030217 neurology & neurosurgery Retinopathy |
| Zdroj: | Neurology International Neurology International, Vol 11, Iss 1 (2019) |
| ISSN: | 2035-8377 2035-8385 |
| 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: | OpenAIRE |
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