The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3

Research output: Contribution to journalArticle

Shi Rui Gan, Karla P. Figueroa, Hao Ling Xu, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, S. H. Subramony, Liana Rosenthal, Tetsuo Ashizawa, Stefan M. Pulst, Ning Wang, Sheng Han Kuo

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.

Original languageEnglish (US)
Pages (from-to)37-43
Number of pages7
JournalParkinsonism and Related Disorders
Volume72
DOIs
StatePublished - Mar 1 2020

PMID: 32105964

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The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. / Gan, Shi Rui; Figueroa, Karla P.; Xu, Hao Ling; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Rosenthal, Liana; Ashizawa, Tetsuo; Pulst, Stefan M.; Wang, Ning; Kuo, Sheng Han.

In: Parkinsonism and Related Disorders, Vol. 72, 01.03.2020, p. 37-43.

Research output: Contribution to journalArticle

Harvard

Gan, SR, Figueroa, KP, Xu, HL, Perlman, S, Wilmot, G, Gomez, CM, Schmahmann, J, Paulson, H, Shakkottai, VG, Ying, SH, Zesiewicz, T, Bushara, K, Geschwind, MD, Xia, G, Subramony, SH, Rosenthal, L, Ashizawa, T, Pulst, SM, Wang, N & Kuo, SH 2020, 'The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3' Parkinsonism and Related Disorders, vol. 72, pp. 37-43. https://doi.org/10.1016/j.parkreldis.2020.02.004

APA

Gan, S. R., Figueroa, K. P., Xu, H. L., Perlman, S., Wilmot, G., Gomez, C. M., ... Kuo, S. H. (2020). The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism and Related Disorders, 72, 37-43. https://doi.org/10.1016/j.parkreldis.2020.02.004

Vancouver

Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM et al. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism and Related Disorders. 2020 Mar 1;72:37-43. https://doi.org/10.1016/j.parkreldis.2020.02.004

Author

Gan, Shi Rui ; Figueroa, Karla P. ; Xu, Hao Ling ; Perlman, Susan ; Wilmot, George ; Gomez, Christopher M. ; Schmahmann, Jeremy ; Paulson, Henry ; Shakkottai, Vikram G. ; Ying, Sarah H. ; Zesiewicz, Theresa ; Bushara, Khalaf ; Geschwind, Michael D. ; Xia, Guangbin ; Subramony, S. H. ; Rosenthal, Liana ; Ashizawa, Tetsuo ; Pulst, Stefan M. ; Wang, Ning ; Kuo, Sheng Han. / The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. In: Parkinsonism and Related Disorders. 2020 ; Vol. 72. pp. 37-43.

BibTeX

@article{5ffa740fa58f4c7d866aca4b8a0b8c3c,
title = "The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3",
abstract = "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.",
keywords = "Cerebellum, Depression, Ethnicity, Neurodegeneration, Spinocerebellar ataxia type 3",
author = "Gan, {Shi Rui} and Figueroa, {Karla P.} and Xu, {Hao Ling} and Susan Perlman and George Wilmot and Gomez, {Christopher M.} and Jeremy Schmahmann and Henry Paulson and Shakkottai, {Vikram G.} and Ying, {Sarah H.} and Theresa Zesiewicz and Khalaf Bushara and Geschwind, {Michael D.} and Guangbin Xia and Subramony, {S. H.} and Liana Rosenthal and Tetsuo Ashizawa and Pulst, {Stefan M.} and Ning Wang and Kuo, {Sheng Han}",
year = "2020",
month = "3",
day = "1",
doi = "10.1016/j.parkreldis.2020.02.004",
language = "English (US)",
volume = "72",
pages = "37--43",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",

}

RIS

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

PY - 2020/3/1

Y1 - 2020/3/1

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

VL - 72

SP - 37

EP - 43

JO - Parkinsonism and Related Disorders

T2 - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

ER -

ID: 59052994