Balint, B;
Damasio, J;
Magrinelli, F;
Guerreiro, R;
Bras, J;
Bhatia, KP;
(2020)
Psychiatric manifestations of ATP13A2 mutations.
Movement Disorders Clinical Practice
, 7
(7)
pp. 838-841.
10.1002/mdc3.13034.
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Abstract
Background: Biallelic mutations in ATP13A2 were identified as the cause of Kufor‐Rakeb disease, a pallido‐pyramidal syndrome characterised by young‐onset dystonia‐parkinsonism with vertical supranuclear gaze palsy, spasticity and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioural manifestations have not been highlighted. / Cases: Here we report the clinical, radiological and genetic findings in two unrelated patients with ATP13A2 mutations. One patient had a prominent behavioural (autistic‐spectrum), 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 behavioural 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.
| Type: | Article |
|---|---|
| Title: | Psychiatric manifestations of ATP13A2 mutations |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/mdc3.13034 |
| Publisher version: | https://doi.org/10.1002/mdc3.13034 |
| Language: | English |
| Additional information: | Copyright © 2020 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10107480 |
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