Academic Journal
Psychiatric manifestations of ATP13A2 mutations
| العنوان: | Psychiatric manifestations of ATP13A2 mutations |
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| المؤلفون: | Balint, Bettina, Damasio, Joana, Magrinelli, Francesca, Guerreiro, Rita, Bras, Jose, Bhatia, Kailash P |
| المساهمون: | Balint, Bettina, Damasio, Joana, Magrinelli, Francesca, Guerreiro, Rita, Bras, Jose, Bhatia, Kailash P |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| مصطلحات موضوعية: | ATP13A2, behavioural, psychiatric, vertical gaze palsy, ataxia, spasticity |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/33033738; info:eu-repo/semantics/altIdentifier/wos/WOS:000565696500001; volume:7; issue:7; firstpage:838; lastpage:841; numberofpages:4; journal:MOVEMENT DISORDERS CLINICAL PRACTICE; http://hdl.handle.net/11562/1026612; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090160475; https://doi.org/10.1002/mdc3.13034; http://www.ncbi.nlm.nih.gov/pmc/articles/pmc7533993/ |
| DOI: | 10.1002/mdc3.13034 |
| الاتاحة: | http://hdl.handle.net/11562/1026612 https://doi.org/10.1002/mdc3.13034 http://www.ncbi.nlm.nih.gov/pmc/articles/pmc7533993/ |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.980472E3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/mdc3.13034 |
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