TY - JOUR
T1 - The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
AU - European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group
AU - Hengel, Holger
AU - Martus, Peter
AU - Faber, Jennifer
AU - Giunit, Paola
AU - Garcia-Moreno, Hector
AU - Solanky, Nita
AU - Klockgether, Thomas
AU - Reetz, Kathrin
AU - van de Warrenburg, Bart P.
AU - Santana, Magda M.
AU - Silva, Patrick
AU - Cunha, Inês
AU - de Almeida, Luís Pereira
AU - Timmann, Dagmar
AU - Infante, Jon
AU - de Vries, Jeroen
AU - Lima, Manuela
AU - Pires, Paula
AU - Bushara, Khalaf
AU - Jacobi, Heike
AU - Onyike, Chiadi
AU - Schmahmann, Jeremy D.
AU - Hübener-Schmid, Jeannette
AU - Synofzik, Matthis
AU - Schöls, Ludger
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2023/2
Y1 - 2023/2
N2 - Background: Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective: To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods: In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results: Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion: This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.
AB - Background: Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective: To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods: In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results: Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion: This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.
KW - Lifestyle
KW - Non-motor symptoms
KW - Physical activity
KW - SCA3
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U2 - 10.1007/s00415-022-11441-z
DO - 10.1007/s00415-022-11441-z
M3 - Article
C2 - 36324033
AN - SCOPUS:85141199384
SN - 0340-5354
VL - 270
SP - 944
EP - 952
JO - Journal of neurology
JF - Journal of neurology
IS - 2
ER -