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Case Reports
. 2020 Sep 4;7(7):838-841.
doi: 10.1002/mdc3.13034. eCollection 2020 Oct.

Psychiatric Manifestations of ATP13A2 Mutations

Bettina Balint  1   2 , Joana Damasio  3   4 , Francesca Magrinelli  1   5 , Rita Guerreiro  6 , Jose Bras  6 , Kailash P Bhatia  1
Affiliations
Case Reports

Psychiatric Manifestations of ATP13A2 Mutations

Bettina Balint et al. Mov Disord Clin Pract. .

Abstract

Background: Biallelic mutations in ATP13A2 were identified as the cause of Kufor-Rakeb disease, a pallido-pyramidal syndrome characterized by young-onset dystonia-parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted.

Cases: Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with ATP13A2 mutations. One patient had a prominent behavioral (autistic spectrum) presentation and the other a psychiatric (paranoid psychosis) presentation. Both had additional features, such as delayed milestones, ataxia, pyramidal signs, upgaze restriction, or impaired cognition to varying extent, but these were partly subtle or developed later in the disease course.

Conclusion: Prominent behavioral or psychiatric features can be the first or most prominent manifestation of ATP13A2-related disease. They may be a diagnostic clue in patients with ataxia, spasticity, or parkinsonism and may require an interdisciplinary neurological and psychiatric treatment approach.

Keywords: ATP13A2, behavioural, psychiatric, vertical gaze palsy, ataxia, spasticity.

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Conflict of interest statement

No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work.

Figures

FIG. 1
FIG. 1
Magnetic resonance imaging and dopamine transporter scan of case 2. Sagittal (A) and transversal (B) fluid attenuated inversion recovery magnetic resonance imaging sequences show generalized brain atrophy with prominent parietal and cerebellar involvement as well as an “ear of the lynx sign” on the left (B). Dopamine transporter single‐photon emission computed tomography demonstrating reduced tracer uptake predominantly on the left.
See this image and copyright information in PMC

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