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Article

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.

Brain research - 1 Jan 2021

Kırımtay Koray, Temizci Benan, Gültekin Murat, Yapıcı Zuhal, Karabay Arzu

Abstract excerpt

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 ATP13A2producing a transmembrane protein responsible for the regulation of intracellular inorganic cations. OBJECTIVE: Two siblings born to a Turkish family of consanguineous marriage had mixed neurological presentations with...

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PMID: 33091395
DOI: 10.1016/j.brainres.2020.147167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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