TY - JOUR
T1 - The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3
AU - Gan, Shi Rui
AU - Figueroa, Karla P.
AU - Xu, Hao Ling
AU - Perlman, Susan
AU - Wilmot, George
AU - Gomez, Christopher M.
AU - Schmahmann, Jeremy
AU - Paulson, Henry
AU - Shakkottai, Vikram G.
AU - Ying, Sarah H.
AU - Zesiewicz, Theresa
AU - Bushara, Khalaf
AU - Geschwind, Michael D.
AU - Xia, Guangbin
AU - Subramony, S. H.
AU - Rosenthal, Liana
AU - Ashizawa, Tetsuo
AU - Pulst, Stefan M.
AU - Wang, Ning
AU - Kuo, Sheng Han
N1 - Publisher Copyright:
© 2020 Elsevier Ltd
PY - 2020/3
Y1 - 2020/3
N2 - Background: For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied. Methods: We used multivariable linear and logistical regression models in 257 molecularly-confirmed SCA3 patients (66 Caucasians, 43 African Americans, and 148 Asians [composed of 131 Chinese and 17 Asian Americans]) to explore the influence of ethnicity on age at onset (AAO), ataxia severity, and non-ataxia symptoms (i.e. depression, tremor, and dystonia). Results: We found that Asians had significantly later AAO, compared to Caucasians (β = 4.75, p = 0.000) and to African Americans (β = 6.64, p = 0.000) after adjusting for the pathological CAG repeat numbers in ATXN3. African Americans exhibited the most severe ataxia as compared to Caucasians (β = 3.81, p = 0.004) and Asians (β = 4.39, p = 0.001) after taking into consideration of the pathological CAG repeat numbers in ATXN3 and disease duration. Caucasians had a higher prevalence of depression than African Americans (β = 1.23, p = 0.040). Ethnicity had no influence on tremor or dystonia. Conclusions: Ethnicity plays an important role in clinical presentations of SCA3 patients, which could merit further clinical studies and public health consideration. These results highlight the role of ethnicity in monogenetic, neurodegenerative disorders.
AB - Background: For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied. Methods: We used multivariable linear and logistical regression models in 257 molecularly-confirmed SCA3 patients (66 Caucasians, 43 African Americans, and 148 Asians [composed of 131 Chinese and 17 Asian Americans]) to explore the influence of ethnicity on age at onset (AAO), ataxia severity, and non-ataxia symptoms (i.e. depression, tremor, and dystonia). Results: We found that Asians had significantly later AAO, compared to Caucasians (β = 4.75, p = 0.000) and to African Americans (β = 6.64, p = 0.000) after adjusting for the pathological CAG repeat numbers in ATXN3. African Americans exhibited the most severe ataxia as compared to Caucasians (β = 3.81, p = 0.004) and Asians (β = 4.39, p = 0.001) after taking into consideration of the pathological CAG repeat numbers in ATXN3 and disease duration. Caucasians had a higher prevalence of depression than African Americans (β = 1.23, p = 0.040). Ethnicity had no influence on tremor or dystonia. Conclusions: Ethnicity plays an important role in clinical presentations of SCA3 patients, which could merit further clinical studies and public health consideration. These results highlight the role of ethnicity in monogenetic, neurodegenerative disorders.
KW - Cerebellum
KW - Depression
KW - Ethnicity
KW - Neurodegeneration
KW - Spinocerebellar ataxia type 3
UR - http://www.scopus.com/inward/record.url?scp=85079695507&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85079695507&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2020.02.004
DO - 10.1016/j.parkreldis.2020.02.004
M3 - Article
C2 - 32105964
AN - SCOPUS:85079695507
SN - 1353-8020
VL - 72
SP - 37
EP - 43
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -