Article

Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-Function<i>ATP13A2</i>Variant and Response to Treatment

2024-01-17

Abstract excerpt

Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy, spasticity, and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is no...

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Literature Corpus work: 7c63f8e0-0503-576e-b439-90054d8f7d2f
DOI: 10.1101/2024.01.12.23300401

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