Published January 1, 2021
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Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay
- 1. Istanbul Tech Univ, Dept Mol Biol & Genet, TR-34469 Istanbul, Turkey
- 2. Erciyes Univ, Dept Neurol, Fac Med, TR-38039 Kayseri, Turkey
- 3. Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34093 Istanbul, Turkey
Description
Background: Kufor-Rakeb Syndrome (KRS) is an autosomal recessive disease characterized by Parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy. KRS is caused by mutations in ATP13A2 producing a transmembrane protein responsible for the regulation of intracellular inorganic cations.
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