Exploring neuropsychiatric symptoms in Friedreich ataxia
Abstract Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to s...
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Nature Portfolio
2024-11-01
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| Online Access: | https://doi.org/10.1038/s41598-024-80258-9 |
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| author | Simona Karamazovova Lucie Stovickova Dylan J. Jester Veronika Matuskova Jaroslava Paulasova-Schwabova Michaela Kuzmiak Alena Zumrova Ross Andel Martin Vyhnalek |
| author_facet | Simona Karamazovova Lucie Stovickova Dylan J. Jester Veronika Matuskova Jaroslava Paulasova-Schwabova Michaela Kuzmiak Alena Zumrova Ross Andel Martin Vyhnalek |
| author_sort | Simona Karamazovova |
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| description | Abstract Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants. Mild Behavioral Impairment Checklist (MBI-C), a questionnaire designed for screening NPS in the early stages of neurodegenerative diseases, was administered to informants of individuals with FRDA and healthy controls and to people with FRDA themselves. Compared to healthy controls, patients with FRDA scored significantly higher in the total MBI-C score, emotion dysregulation domain (corresponding to depression and anxiety), and decreased motivation domain. When assessed by caregiver, the total MBI-C score and several NPS domains correlated with activities of daily living. Only psychotic symptoms were related to ataxia severity and general cognition. When endorsed by patients, only the relation between few MBI-C domains and quality of life was observed. We found slight to moderate agreement between informant-rated and patient-rated scores. NPS, particularly emotion dysregulation and decreased motivation, are common and clinically relevant in FRDA and should receive more attention due to their potential impact on quality of life and the possibility of therapeutic intervention. |
| format | Article |
| id | doaj-art-e44fc1fa8fdc4f2185344d0e4a948b7f |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-e44fc1fa8fdc4f2185344d0e4a948b7f2025-02-02T12:25:11ZengNature PortfolioScientific Reports2045-23222024-11-011411910.1038/s41598-024-80258-9Exploring neuropsychiatric symptoms in Friedreich ataxiaSimona Karamazovova0Lucie Stovickova1Dylan J. Jester2Veronika Matuskova3Jaroslava Paulasova-Schwabova4Michaela Kuzmiak5Alena Zumrova6Ross Andel7Martin Vyhnalek8Center of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityCenter of Hereditary Ataxias, Department of Pediatric Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityWomen’s Operational Military Exposure Network Center of Excellence (WOMEN CoE), VA Palo Alto Health Care SystemCenter of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityCenter of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityCenter of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityCenter of Hereditary Ataxias, Department of Pediatric Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityEdson College of Nursing and Health Innovation, Arizona State UniversityCenter of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles UniversityAbstract Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants. Mild Behavioral Impairment Checklist (MBI-C), a questionnaire designed for screening NPS in the early stages of neurodegenerative diseases, was administered to informants of individuals with FRDA and healthy controls and to people with FRDA themselves. Compared to healthy controls, patients with FRDA scored significantly higher in the total MBI-C score, emotion dysregulation domain (corresponding to depression and anxiety), and decreased motivation domain. When assessed by caregiver, the total MBI-C score and several NPS domains correlated with activities of daily living. Only psychotic symptoms were related to ataxia severity and general cognition. When endorsed by patients, only the relation between few MBI-C domains and quality of life was observed. We found slight to moderate agreement between informant-rated and patient-rated scores. NPS, particularly emotion dysregulation and decreased motivation, are common and clinically relevant in FRDA and should receive more attention due to their potential impact on quality of life and the possibility of therapeutic intervention.https://doi.org/10.1038/s41598-024-80258-9Friedreich ataxiaNeuropsychiatric symptomsCerebellumMBI-C |
| spellingShingle | Simona Karamazovova Lucie Stovickova Dylan J. Jester Veronika Matuskova Jaroslava Paulasova-Schwabova Michaela Kuzmiak Alena Zumrova Ross Andel Martin Vyhnalek Exploring neuropsychiatric symptoms in Friedreich ataxia Scientific Reports Friedreich ataxia Neuropsychiatric symptoms Cerebellum MBI-C |
| title | Exploring neuropsychiatric symptoms in Friedreich ataxia |
| title_full | Exploring neuropsychiatric symptoms in Friedreich ataxia |
| title_fullStr | Exploring neuropsychiatric symptoms in Friedreich ataxia |
| title_full_unstemmed | Exploring neuropsychiatric symptoms in Friedreich ataxia |
| title_short | Exploring neuropsychiatric symptoms in Friedreich ataxia |
| title_sort | exploring neuropsychiatric symptoms in friedreich ataxia |
| topic | Friedreich ataxia Neuropsychiatric symptoms Cerebellum MBI-C |
| url | https://doi.org/10.1038/s41598-024-80258-9 |
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