Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
<p><strong>Background:</strong> 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...
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2017-10-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/492 |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 Vikramq G. Shakkottai Sarah H. Ying Theresa Zesiewicz Khalaf Bushara Michael D. Geschwind Guangbin Xia S. H. Subramony Tetsuo Ashizawa Sheng-Han Kuo |
| spellingShingle |
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 Vikramq G. Shakkottai Sarah H. Ying Theresa Zesiewicz Khalaf Bushara Michael D. Geschwind Guangbin Xia S. H. Subramony Tetsuo Ashizawa Sheng-Han Kuo Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias Tremor and Other Hyperkinetic Movements |
| author_facet |
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 Vikramq G. Shakkottai Sarah H. Ying Theresa Zesiewicz Khalaf Bushara Michael D. Geschwind Guangbin Xia S. H. Subramony Tetsuo Ashizawa Sheng-Han Kuo |
| author_sort |
Shi-Rui Gan |
| title |
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias |
| title_short |
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias |
| title_full |
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias |
| title_fullStr |
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias |
| title_full_unstemmed |
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias |
| title_sort |
postural tremor and ataxia progression in spinocerebellar ataxias |
| publisher |
Ubiquity Press |
| series |
Tremor and Other Hyperkinetic Movements |
| issn |
2160-8288 |
| publishDate |
2017-10-01 |
| description |
<p><strong>Background:</strong> 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.</p><p><strong>Methods:</strong> 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.</p><p><strong>Results:</strong> 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, <em>β</em> = –0.91, p < 0.001; SCA6, <em>β</em> = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (<em>β</em> = 1.54, p = 0.034). We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of <em>ATXN1</em> (<em>β</em> = –1.53, p = 0.037) and <em>ATXN3</em> (<em>β</em> = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in <em>TBP</em> (<em>β</em> = 0.63, p = 0.041) and <em>PPP2R2B</em> (<em>β</em> = –0.40, p = 0.032).</p><p><strong>Discussion:</strong> 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.</p> |
| url |
https://tremorjournal.org/index.php/tremor/article/view/492 |
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doaj-c8b087a6a56b4837b9e9fa4a4913c6332021-04-02T15:51:48ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882017-10-01710.7916/D8GM8KRH345Postural Tremor and Ataxia Progression in Spinocerebellar AtaxiasShi-Rui Gan0Jie Wang1Karla P. Figueroa2Stefan M. Pulst3Darya Tomishon4Danielle Lee5Susan Perlman6George Wilmot7Christopher M. Gomez8Jeremy Schmahmann9Henry Paulson10Vikramq G. Shakkottai11Sarah H. Ying12Theresa Zesiewicz13Khalaf Bushara14Michael D. Geschwind15Guangbin Xia16S. H. Subramony17Tetsuo Ashizawa18Sheng-Han Kuo19Department of Neurology, College of Physicians and Surgeons, Columbia University; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical UniversityDepartment of Neurology, College of Physicians and Surgeons, Columbia University; Department of Basic and Community Nursing, School of Nursing, Nanjing Medical UniversityDepartment of Neurology, University of UtahDepartment of Neurology, University of UtahDepartment of Neurology, College of Physicians and Surgeons, Columbia UniversityDepartment of Neurology, College of Physicians and Surgeons, Columbia UniversityDepartment of Neurology, University of California Los AngelesDepartment of Neurology, Emory UniversityDepartment of Neurology, University of ChicagoDepartment of Neurology, Massachusetts General Hospital, Harvard Medical SchoolDepartment of Neurology, University of MichiganDepartment of Neurology, University of MichiganDepartment of Neurology, Johns Hopkins UniversityDepartment of Neurology, University of South FloridaDepartment of Neurology, University of MinnesotaDepartment of Neurology, University of California San FranciscoDepartment of Neurology and mcknight Brain Institute, University of FloridaDepartment of Neurology and mcknight Brain Institute, University of FloridaHouston Methodist Research InstituteDepartment of Neurology, College of Physicians and Surgeons, Columbia University<p><strong>Background:</strong> 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.</p><p><strong>Methods:</strong> 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.</p><p><strong>Results:</strong> 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, <em>β</em> = –0.91, p < 0.001; SCA6, <em>β</em> = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (<em>β</em> = 1.54, p = 0.034). We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of <em>ATXN1</em> (<em>β</em> = –1.53, p = 0.037) and <em>ATXN3</em> (<em>β</em> = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in <em>TBP</em> (<em>β</em> = 0.63, p = 0.041) and <em>PPP2R2B</em> (<em>β</em> = –0.40, p = 0.032).</p><p><strong>Discussion:</strong> 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.</p>https://tremorjournal.org/index.php/tremor/article/view/492 |