Postural tremor and ataxia progression in spinocerebellar ataxias

Shi Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon, Danielle Lee, 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, Tetsuo Ashizawa, Sheng Han Kuo

Research output: Contribution to journalArticle

Abstract

Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. Methods: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Results: Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8%; SCA2, 27.5%; SCA3, 12.4%; SCA6, 16.9%; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = –0.91, p < 0.001; SCA6, β = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β =5 1.54, p = 0.034).We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = –1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = –0.40, p = 0.032). Discussion: Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor.

Original languageEnglish (US)
JournalTremor and Other Hyperkinetic Movements
Volume7
DOIs
StatePublished - Oct 9 2017

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Spinocerebellar Ataxias
Tremor
Ataxia

Keywords

  • Cerebellum
  • Genetics
  • Neurodegeneration
  • Postural tremor
  • Spinocerebellar ataxias

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Gan, S. R., Wang, J., Figueroa, K. P., Pulst, S. M., Tomishon, D., Lee, D., ... Kuo, S. H. (2017). Postural tremor and ataxia progression in spinocerebellar ataxias. Tremor and Other Hyperkinetic Movements, 7. https://doi.org/10.7916/D8GM8KRH

Postural tremor and ataxia progression in spinocerebellar ataxias. / Gan, Shi Rui; Wang, Jie; Figueroa, Karla P.; Pulst, Stefan M.; Tomishon, Darya; Lee, Danielle; 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.; Ashizawa, Tetsuo; Kuo, Sheng Han.

In: Tremor and Other Hyperkinetic Movements, Vol. 7, 09.10.2017.

Research output: Contribution to journalArticle

Gan, SR, Wang, J, Figueroa, KP, Pulst, SM, Tomishon, D, Lee, D, Perlman, S, Wilmot, G, Gomez, CM, Schmahmann, J, Paulson, H, Shakkottai, VG, Ying, SH, Zesiewicz, T, Bushara, K, Geschwind, MD, Xia, G, Subramony, SH, Ashizawa, T & Kuo, SH 2017, 'Postural tremor and ataxia progression in spinocerebellar ataxias', Tremor and Other Hyperkinetic Movements, vol. 7. https://doi.org/10.7916/D8GM8KRH
Gan, Shi Rui ; Wang, Jie ; Figueroa, Karla P. ; Pulst, Stefan M. ; Tomishon, Darya ; Lee, Danielle ; 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. ; Ashizawa, Tetsuo ; Kuo, Sheng Han. / Postural tremor and ataxia progression in spinocerebellar ataxias. In: Tremor and Other Hyperkinetic Movements. 2017 ; Vol. 7.
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abstract = "Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. Methods: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Results: Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8{\%}; SCA2, 27.5{\%}; SCA3, 12.4{\%}; SCA6, 16.9{\%}; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = –0.91, p < 0.001; SCA6, β = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β =5 1.54, p = 0.034).We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = –1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = –0.40, p = 0.032). Discussion: Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor.",
keywords = "Cerebellum, Genetics, Neurodegeneration, Postural tremor, Spinocerebellar ataxias",
author = "Gan, {Shi Rui} and Jie Wang and Figueroa, {Karla P.} and Pulst, {Stefan M.} and Darya Tomishon and Danielle Lee 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 Tetsuo Ashizawa and Kuo, {Sheng Han}",
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T1 - Postural tremor and ataxia progression in spinocerebellar ataxias

AU - Gan, Shi Rui

AU - Wang, Jie

AU - Figueroa, Karla P.

AU - Pulst, Stefan M.

AU - Tomishon, Darya

AU - Lee, Danielle

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 - Ashizawa, Tetsuo

AU - Kuo, Sheng Han

PY - 2017/10/9

Y1 - 2017/10/9

N2 - Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. Methods: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Results: Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8%; SCA2, 27.5%; SCA3, 12.4%; SCA6, 16.9%; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = –0.91, p < 0.001; SCA6, β = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β =5 1.54, p = 0.034).We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = –1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = –0.40, p = 0.032). Discussion: Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor.

AB - Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. Methods: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Results: Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8%; SCA2, 27.5%; SCA3, 12.4%; SCA6, 16.9%; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = –0.91, p < 0.001; SCA6, β = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β =5 1.54, p = 0.034).We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = –1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = –0.40, p = 0.032). Discussion: Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor.

KW - Cerebellum

KW - Genetics

KW - Neurodegeneration

KW - Postural tremor

KW - Spinocerebellar ataxias

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