Correlation analysis of body mass index and disease severity in patients with spinocerebellar ataxia type 3_West China Medical Journal

Authors：

LIN Han ^1,2,3,4 , ZHANG Jiayi ^1,2,3,4 , GAN Shirui ^1,2,3,5,6 , WANG Ning ^1,2,3,5,6 ,  LIN Minting ^1,2,3,5,6

1. Department of Neurology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, P. R. China;
2. Department of Rare Diseases, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, P. R. China;
3. National Regional Medical Center, Binhai Campus of the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350209, P. R. China;
4. The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian 350122, P. R. China;
5. Fujian Institute of Neurology, Fuzhou, Fujian 350005, P. R. China;
6. Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350004, P. R. China;

Corresponding author：

LIN Minting, Email: mintinglin@fjmu.edu.cn

Keywords：

Spinocerebellar ataxia type 3; body mass index; severity of illness

DOI：

10.7507/1002-0179.202406006

Video：

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Objective To explore the correlation between body mass index (BMI) and disease severity in patients with spinocerebellar ataxia type 3 (SCA3). Methods Patients who visited the Department of Neurology of the First Affiliated Hospital of Fujian Medical University with a confirmed diagnosis of SCA3 between July 2022 and August 2023 were selected as a case group, and healthy individuals between June 2024 and October 2024 were selected as a control group, and the BMI levels of the two groups were compared. Patient demographics and clinical statistics were collected, the severity of ataxia in SCA3 patients was assessed using the Scale for the Assessment and Rating of Ataxi, and the relationship between BMI and disease severity was evaluated. Results A total of 101 patients and 101 healthy individuals were included. The BMI levels of SCA3 patients were significantly lower than those of normal controls (t=−2.370, P=0.019). The results of the multiple linear regression model showed that the BMI, disease duration and smoking history had an effect on the disease severity of SCA3 patients (P<0.05), and disease duration and disease severity had a significant effect on the disease progression in SCA3 patients (P<0.05). Conclusion There may be a correlation between BMI and disease severity in SCA3 patients, and controlling the BMI level may help to control the disease in SCA3 patients.

Citation： LIN Han, ZHANG Jiayi, GAN Shirui, WANG Ning, LIN Minting. Correlation analysis of body mass index and disease severity in patients with spinocerebellar ataxia type 3. West China Medical Journal, 2025, 40(1): 11-16. doi: 10.7507/1002-0179.202406006 Copy

1.	Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol, 2010, 9(9): 885-894.
2.	Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical featuresin Machado-Joseph disease. Am J Hum Genet, 1995, 57(1): 54-61.
3.	Ranum LP, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet, 1995, 57(3): 603-608.
4.	Gan SR, Ni W, Dong Y, et al. Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population. PLoS One, 2015, 10(8): e0134405.
5.	范红珍, 姚文涛, 王建华, 等. 遗传性脊髓小脑共济失调 3 型 2 家系临床特征分析. 中国神经精神疾病杂志, 2018, 44(3): 186-189.
6.	陈余雪, 李岚, 赵莉, 等. 体重指数与 IIS 系统在脊髓小脑共济失调 3 型研究中的作用. 中国神经免疫学和神经病学杂志, 2014, 21(6): 397-400.
7.	Yang JS, Chen PP, Lin MT, et al. Association between body mass index and disease severity in Chinese spinocerebellar ataxia type 3 patients. Cerebellum, 2018, 17(4): 494-498.
8.	Diallo A, Jacobi H, Schmitz-Hübsch T, et al. Body mass index decline is related to spinocerebellar ataxia disease progression. Mov Disord Clin Pract, 2017, 4(5): 689-697.
9.	Gan SR, Shi SS, Wu JJ, et al. High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. BMC Med Genet, 2010, 11: 47.
10.	Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, et al. Reliability and validity of the international cooperative ataxia rating scale: a study in 156 spinocerebellar ataxia patients. Mov Disord, 2006, 21(5): 699-704.
11.	Guo J, Jiang Z, Biswal BB, et al. Hypothalamic atrophy, expanded CAG repeat, and low body mass index in spinocerebellar ataxia type 3. Mov Disord, 2022, 37(7): 1541-1546.
12.	Leite CMBA, Schieferdecker MEM, Frehner C, et al. Body composition in spinocerebellar ataxia type 3 and 10 patients: comparative study with control group. Nutr Neurosci, 2020, 23(1): 49-54.
13.	Saute JA, Silva AC, Souza GN, et al. Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients. Cerebellum, 2012, 11(3): 771-774.
14.	Hengel H, Martus P, Faber J, et al. Characterization of lifestyle in spinocerebellar ataxia type 3 and association with disease severity. Mov Disord, 2022, 37(2): 405-410.
15.	Russo AD, Reckziegel ER, Krum-Santos AC, et al. Clinical scales predict significant videofluoroscopic dysphagia in Machado Joseph disease patients. Mov Disord Clin Pract, 2015, 2(3): 260-266.
16.	Rodriguez-Graña T, Rodríguez-Labrada R, Santana-Porbén S, et al. Weight loss is correlated with disease severity in spinocerebellar ataxia type 2: a cross-sectional cohort study. Nutr Neurosci, 2022, 25(8): 1747-1755.
17.	Chiu C, Cheng W, Lin Y, et al. A pilot study: handgrip as a predictor in the disease progression of SCA3. Orphanet J Rare Dis, 2023, 18(1): 317.
18.	Mukherjee S, Walter S, Kauwe JSK, et al. Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimers Dement, 2015, 11(12): 1439-1451.
19.	van der Burg JMM, Gardiner SL, Ludolph AC, et al. Body weight is a robust predictor of clinical progression in Huntington disease. Ann Neurol, 2017, 82(3): 479-483.
20.	Marin B, Desport JC, Kajeu P, et al. Alteration of nutritional status at diagnosis is a prognostic factor for survival of amyotrophic lateral sclerosis patients. J Neurol Neurosurg Psychiatry, 2011, 82(6): 628-634.
21.	Saute JA, da Silva AC, Muller AP, et al. Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3. Mov Disord, 2011, 26(4): 731-735.

1. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol, 2010, 9(9): 885-894.
2. Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical featuresin Machado-Joseph disease. Am J Hum Genet, 1995, 57(1): 54-61.
3. Ranum LP, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet, 1995, 57(3): 603-608.
4. Gan SR, Ni W, Dong Y, et al. Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population. PLoS One, 2015, 10(8): e0134405.
5. 范红珍, 姚文涛, 王建华, 等. 遗传性脊髓小脑共济失调 3 型 2 家系临床特征分析. 中国神经精神疾病杂志, 2018, 44(3): 186-189.
6. 陈余雪, 李岚, 赵莉, 等. 体重指数与 IIS 系统在脊髓小脑共济失调 3 型研究中的作用. 中国神经免疫学和神经病学杂志, 2014, 21(6): 397-400.
7. Yang JS, Chen PP, Lin MT, et al. Association between body mass index and disease severity in Chinese spinocerebellar ataxia type 3 patients. Cerebellum, 2018, 17(4): 494-498.
8. Diallo A, Jacobi H, Schmitz-Hübsch T, et al. Body mass index decline is related to spinocerebellar ataxia disease progression. Mov Disord Clin Pract, 2017, 4(5): 689-697.
9. Gan SR, Shi SS, Wu JJ, et al. High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. BMC Med Genet, 2010, 11: 47.
10. Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, et al. Reliability and validity of the international cooperative ataxia rating scale: a study in 156 spinocerebellar ataxia patients. Mov Disord, 2006, 21(5): 699-704.
11. Guo J, Jiang Z, Biswal BB, et al. Hypothalamic atrophy, expanded CAG repeat, and low body mass index in spinocerebellar ataxia type 3. Mov Disord, 2022, 37(7): 1541-1546.
12. Leite CMBA, Schieferdecker MEM, Frehner C, et al. Body composition in spinocerebellar ataxia type 3 and 10 patients: comparative study with control group. Nutr Neurosci, 2020, 23(1): 49-54.
13. Saute JA, Silva AC, Souza GN, et al. Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients. Cerebellum, 2012, 11(3): 771-774.
14. Hengel H, Martus P, Faber J, et al. Characterization of lifestyle in spinocerebellar ataxia type 3 and association with disease severity. Mov Disord, 2022, 37(2): 405-410.
15. Russo AD, Reckziegel ER, Krum-Santos AC, et al. Clinical scales predict significant videofluoroscopic dysphagia in Machado Joseph disease patients. Mov Disord Clin Pract, 2015, 2(3): 260-266.
16. Rodriguez-Graña T, Rodríguez-Labrada R, Santana-Porbén S, et al. Weight loss is correlated with disease severity in spinocerebellar ataxia type 2: a cross-sectional cohort study. Nutr Neurosci, 2022, 25(8): 1747-1755.
17. Chiu C, Cheng W, Lin Y, et al. A pilot study: handgrip as a predictor in the disease progression of SCA3. Orphanet J Rare Dis, 2023, 18(1): 317.
18. Mukherjee S, Walter S, Kauwe JSK, et al. Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. Alzheimers Dement, 2015, 11(12): 1439-1451.
19. van der Burg JMM, Gardiner SL, Ludolph AC, et al. Body weight is a robust predictor of clinical progression in Huntington disease. Ann Neurol, 2017, 82(3): 479-483.
20. Marin B, Desport JC, Kajeu P, et al. Alteration of nutritional status at diagnosis is a prognostic factor for survival of amyotrophic lateral sclerosis patients. J Neurol Neurosurg Psychiatry, 2011, 82(6): 628-634.
21. Saute JA, da Silva AC, Muller AP, et al. Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3. Mov Disord, 2011, 26(4): 731-735.

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