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Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia
INTRODUCTION: Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa syndrome, the non-motor symptoms of this neurotransmitter deficiency have still received limited attention. OBJECTIVE: Thi...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248209/ https://www.ncbi.nlm.nih.gov/pubmed/35782624 http://dx.doi.org/10.1016/j.ymgmr.2022.100870 |
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author | Alves Júnior, Ailton C. Daker, Maurício V. Machado, Alexei M.C. Luna, Alan S. Valladares Neto, Dirceu C. Valadares, Eugenia R. |
author_facet | Alves Júnior, Ailton C. Daker, Maurício V. Machado, Alexei M.C. Luna, Alan S. Valladares Neto, Dirceu C. Valadares, Eugenia R. |
author_sort | Alves Júnior, Ailton C. |
collection | PubMed |
description | INTRODUCTION: Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa syndrome, the non-motor symptoms of this neurotransmitter deficiency have still received limited attention. OBJECTIVE: This study aims to evaluate non-motor symptoms of this dopa-responsive dystonia through an intrafamilial comparative cross-sectional study. METHODS: Seventeen individuals with a c.IVS5 + 3insT (c.626 + 3insT) variation in the GTP cyclohydrolase-1 gene (GCH1, HGNC: 4193) and 34 intrafamilial controls were studied using the Beck Depression Inventory-II, the Wiener Matrizen Test 2, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, the MINI/MINI PLUS Questionnaires, the World Health Organization Quality of Life – BREF Instrument and a drug use assessment questionnaire. RESULTS: No significant difference was found between the groups in the prevalence of sleep disorders and in cognitive function. Nevertheless, generalized anxiety disorder (p = 0.050) and attention-deficit/hyperactivity disorder in childhood (p = 0.011) were observed only in individuals without the molecular variation. The group with the GCH1 variation presented a worse perception about how safe they feel in their daily lives (p = 0.034), less satisfaction with themselves (p = 0.049) and with their relationships (p = 0.029), and a higher prevalence of past major depressive episodes before use of L-Dopa (p = 0.046). CONCLUSION: Low dopamine could have been protective against generalized anxiety disorder and attention-deficit/hyperactivity disorder in childhood in Segawa group individuals. The prevalence of depression was higher in individuals with the molecular variant prior to the L-Dopa treatment. Considering it, the penetrance estimates for the variant carriers increased from 58.8% to up to 88% in this large studied family. Additionally, neuropsychiatric tests of all individuals with a molecular diagnosis in an affected family are a valuable instrument for its clinical management. |
format | Online Article Text |
id | pubmed-9248209 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-92482092022-07-02 Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia Alves Júnior, Ailton C. Daker, Maurício V. Machado, Alexei M.C. Luna, Alan S. Valladares Neto, Dirceu C. Valadares, Eugenia R. Mol Genet Metab Rep Research Paper INTRODUCTION: Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa syndrome, the non-motor symptoms of this neurotransmitter deficiency have still received limited attention. OBJECTIVE: This study aims to evaluate non-motor symptoms of this dopa-responsive dystonia through an intrafamilial comparative cross-sectional study. METHODS: Seventeen individuals with a c.IVS5 + 3insT (c.626 + 3insT) variation in the GTP cyclohydrolase-1 gene (GCH1, HGNC: 4193) and 34 intrafamilial controls were studied using the Beck Depression Inventory-II, the Wiener Matrizen Test 2, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, the MINI/MINI PLUS Questionnaires, the World Health Organization Quality of Life – BREF Instrument and a drug use assessment questionnaire. RESULTS: No significant difference was found between the groups in the prevalence of sleep disorders and in cognitive function. Nevertheless, generalized anxiety disorder (p = 0.050) and attention-deficit/hyperactivity disorder in childhood (p = 0.011) were observed only in individuals without the molecular variation. The group with the GCH1 variation presented a worse perception about how safe they feel in their daily lives (p = 0.034), less satisfaction with themselves (p = 0.049) and with their relationships (p = 0.029), and a higher prevalence of past major depressive episodes before use of L-Dopa (p = 0.046). CONCLUSION: Low dopamine could have been protective against generalized anxiety disorder and attention-deficit/hyperactivity disorder in childhood in Segawa group individuals. The prevalence of depression was higher in individuals with the molecular variant prior to the L-Dopa treatment. Considering it, the penetrance estimates for the variant carriers increased from 58.8% to up to 88% in this large studied family. Additionally, neuropsychiatric tests of all individuals with a molecular diagnosis in an affected family are a valuable instrument for its clinical management. Elsevier 2022-04-18 /pmc/articles/PMC9248209/ /pubmed/35782624 http://dx.doi.org/10.1016/j.ymgmr.2022.100870 Text en © 2022 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Research Paper Alves Júnior, Ailton C. Daker, Maurício V. Machado, Alexei M.C. Luna, Alan S. Valladares Neto, Dirceu C. Valadares, Eugenia R. Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title | Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title_full | Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title_fullStr | Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title_full_unstemmed | Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title_short | Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
title_sort | neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248209/ https://www.ncbi.nlm.nih.gov/pubmed/35782624 http://dx.doi.org/10.1016/j.ymgmr.2022.100870 |
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