Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3

• Published in: European journal of neurology Vol. 32; no. 4; pp. e70093 - n/a
• Main Authors: Chen, Zhi‐li, Xiao, Li‐mei, Li, Chun, Qiu, Liang‐liang, Lin, Wei, Ye, Zhi‐xian, Zhang, Yuan‐yuan, Zhu, Zhi‐bao, Li, Meng‐cheng, Lin, Min‐ting, Chen, Wan‐jin, Wang, Ning, Fu, Ying, Gan, Shi‐rui
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.04.2025; John Wiley and Sons Inc
• Subjects: Adult; Aged; Ataxia; Brain; Brain - diagnostic imaging; Brain - pathology; Brain architecture; cerebellar volume; Cerebellum; cortical volume; Disease Progression; Evaluation; Fatigue; Fatigue - diagnostic imaging; Fatigue - epidemiology; Fatigue - etiology; Fatigue - physiopathology; Female; Humans; Machado-Joseph disease; Machado-Joseph Disease - complications; Machado-Joseph Disease - diagnostic imaging; Machado-Joseph Disease - genetics; Machado-Joseph Disease - physiopathology; Magnetic Resonance Imaging; Male; Middle Aged; Original; Polyglutamine; Prospective Studies; Quality of Life; spinocerebellar ataxia type 3 (Machado‐Joseph disease); Trinucleotide repeat diseases; Trinucleotide repeats; cortical volume; fatigue; magnetic resonance imaging; cerebellar volume; spinocerebellar ataxia type 3 (Machado‐Joseph disease)
• ISSN: 1351-5101; 1468-1331; 1468-1331
• DOI: 10.1111/ene.70093

ABSTRACT Objective Fatigue is a significant symptom in patients with spinocerebellar ataxia type 3 (SCA3). This study explores the role of fatigue in SCA3, examining its impact on quality of life and its potential as an indicator of disease progression. Methods We prospectively recruited 128 molecularly confirmed SCA3 patients and 125 sex‐, age‐, and education‐matched healthy controls (HCs). Age at onset, disease duration, length of normal and expanded CAG repeats, and 14‐item Fatigue Scale score were compared. MRIs evaluated the cerebellum and brain lesions. Results Our study found that the preataxic SCA3 group exhibited lower fatigue incidence and score than HCs (Incidence: 13% vs. 36%, p = 0.031; FS‐14 score: 3.0 ± 2.7 vs. 5.6 ± 2.8, p < 0.001). Ataxic SCA3 patients experienced significantly higher fatigue incidence and score compared to both the preataxic SCA3 group (Incidence: 63.8% vs. 13%, p < 0.001; FS‐14 score: 8.1 ± 3.9 vs. 3.0 ± 2.7, p < 0.001) and HCs (Incidence: 63.8% vs. 36%, p < 0.001; FS‐14 score: 8.1 ± 3.9 vs. 5.6 ± 2.8, p < 0.001). Moreover, fatigue severity in SCA3 correlated with disease duration and expanded CAG repeat length. Neuroanatomical correlations revealed volume reductions in cortical and cerebellar regions linked to higher physical and mental fatigue scores in SCA3 patients. Conclusions Monitoring fatigue effectively evaluates a patient's overall quality of life and disease progression, making it a key indicator. Future treatments can target specific brain regions, with their effectiveness being evaluated through FS‐14 assessments of fatigue changes.