دورية أكاديمية
Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
| العنوان: | Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. |
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| المؤلفون: | Bolzan G; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Müller Eyng ME; Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Leotti VB; Departmento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Programa de Pós-Graduação em Epidemiologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Saraiva-Pereira ML; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Jardim LB; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address: ljardim@hcpa.edu.br. |
| المصدر: | Cortex; a journal devoted to the study of the nervous system and behavior [Cortex] 2024 Feb; Vol. 171, pp. 370-382. Date of Electronic Publication: 2023 Nov 21. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Masson Country of Publication: Italy NLM ID: 0100725 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1973-8102 (Electronic) Linking ISSN: 00109452 NLM ISO Abbreviation: Cortex Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Milan : Masson Original Publication: Varese. |
| مواضيع طبية MeSH: | Machado-Joseph Disease*/genetics , Spinocerebellar Ataxias*/genetics , Cerebellar Ataxia*, Humans ; Activities of Daily Living ; Ataxia ; Cognition |
| مستخلص: | Background: Cognitive deficits were related to Spinocerebellar Ataxia type 3/Machado-Joseph Disease (SCA3/MJD), but the Cerebellar Cognitive Affective Syndrome (CCAS) needs further investigation in this disorder. We aimed to characterize cognitive-affective deficits in manifest and premanifest SCA3/MJD carriers. Methods: Subjects at 50% risk, manifest carriers and unrelated controls were evaluated in-person or in virtual settings with CCAS Scale (CCAS-S), Stroop Color-Word Test (SCWT), Trail-Making Test (TMT), and Reading the Mind in the Eyes Test (RMET). Scale for Assessment and Rating of Ataxia (SARA) >2.5 or Friedreich Ataxia Rating Scale/Activities of Daily Living (FARS-adl) >4 divided carriers into manifest and premanifest. Time after onset or time left to gait ataxia onset (TimeToAfterOnset) were estimated. Differences between groups and correlations with TimeToAfterOnset, SARA and FARS-adl were checked. Results: After random selection to balance groups, 23 manifest and 35 premanifest carriers, and 58 controls were included. CCAS-S, semantic fluency, phonemic fluency, category switching, affect, SCWT, and RMET showed significant differences between manifest carriers and controls; premanifest carriers mostly displayed intermediate values between controls and manifest carriers. These variables correlated with TimeToAfterOnset and SARA scores of the carriers. Correlations with SARA were stronger in the pre-ataxic group. CCAS-S had the strongest correlations with time and SARA. Discussion: Cognitive-affective deficits in SCA3/MJD involve executive function, language, affect, and social cognition, which seem to be altered prior to the ataxia onset, and correlate with markers of motor progression. CCAS-S was the most promising biomarker and should be evaluated in longitudinal studies. Competing Interests: Declaration of competing interest The authors have no competing interests to disclose. (Copyright © 2023 Elsevier Ltd. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Affect; Cerebellar Cognitive Affective/Schmahmann Syndrome; Cognition; Machado-Joseph Disease; Spinocerebellar Ataxia Type 3 |
| تواريخ الأحداث: | Date Created: 20231213 Date Completed: 20240214 Latest Revision: 20240522 |
| رمز التحديث: | 20240523 |
| DOI: | 10.1016/j.cortex.2023.09.021 |
| PMID: | 38091940 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1973-8102 |
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| DOI: | 10.1016/j.cortex.2023.09.021 |