The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

Lan Luo^#¹, Jie Wang^#^{2

1}, Raymond Y Lo³, Karla P Figueroa⁴, Stefan M Pulst⁴, Pei-Hsin Kuo^{1

3}, Susan Perlman⁵, George Wilmot⁶, Christopher M Gomez⁷, Jeremy Schmahmann⁸, Henry Paulson⁹, Vikram G Shakkottai⁹, Sarah H Ying¹⁰, Theresa Zesiewicz¹¹, Khalaf Bushara¹², Michael Geschwind¹³, Guangbin Xia¹⁴, S H Subramony¹⁴, Tetsuo Ashizawa¹⁵, Sheng-Han Kuo¹

Affiliations

¹ Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
² Department of Basic and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu, China.
³ Department of Neurology, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan.
⁴ Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
⁵ Department of Neurology, University of California Los Angeles, California, USA.
⁶ Department of Neurology, Emory University, Atlanta, Georgia, USA.
⁷ Department of Neurology, University of Chicago, Chicago, Illinois, USA.
⁸ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
⁹ Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
¹⁰ Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
¹¹ Department of Neurology, University of South Florida, Tampa, Florida, USA.
¹² Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
¹³ Department of Neurology, University of California San Francisco, California, USA.
¹⁴ Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, USA.
¹⁵ Houston Methodist Research Institute, Houston, Texas, USA.

^# Contributed equally.

PMID: 27848087
PMCID: PMC5429172
DOI: 10.1007/s12311-016-0836-3

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

Lan Luo et al. Cerebellum. 2017 Jun.

. 2017 Jun;16(3):615-622.

doi: 10.1007/s12311-016-0836-3.

Authors

Affiliations

¹ Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
² Department of Basic and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu, China.
³ Department of Neurology, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan.
⁴ Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
⁵ Department of Neurology, University of California Los Angeles, California, USA.
⁶ Department of Neurology, Emory University, Atlanta, Georgia, USA.
⁷ Department of Neurology, University of Chicago, Chicago, Illinois, USA.
⁸ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
⁹ Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
¹⁰ Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
¹¹ Department of Neurology, University of South Florida, Tampa, Florida, USA.
¹² Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
¹³ Department of Neurology, University of California San Francisco, California, USA.
¹⁴ Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, USA.
¹⁵ Houston Methodist Research Institute, Houston, Texas, USA.

^# Contributed equally.

PMID: 27848087
PMCID: PMC5429172
DOI: 10.1007/s12311-016-0836-3

Abstract

The aim of this study is to determine whether the initial symptom associates with motor progression in spinocerebellar ataxias (SCAs). SCAs are clinically heterogeneous and the initial presentation may represent different subtypes of SCA with different motor progression. We studied 317 participants with SCAs1, 2, 3, and 6 from the Clinical Research Consortium for SCAs (CRC-SCA) and repeatedly measured the severity of ataxia for 2 years. SCA patients were divided into gait-onset and non-gait-onset (speech, vision, and hand dexterity) groups based on the initial presentation. In addition to demographic comparison, we employed regression models to study ataxia progression in these two groups after adjusting for age, sex, and pathological CAG repeats. The majority of SCA patients had gait abnormality as an initial presentation. The pathological CAG repeat expansions were similar between the gait-onset and non-gait-onset groups. In SCA1, gait-onset group progressed slower than non-gait-onset group, while gait-onset SCA6 group progressed faster than their counterpart. In addition, the disease presented 9 years later for SCA2 gait-onset group than non-gait-onset group. Initial symptoms of SCA3 did not influence age of onset or disease progression. The initial symptom in each SCA has a different influence on age of onset and motor progression. Therefore, gait and non-gait-onset groups of SCAs might represent different subtypes of the diseases.

Keywords: Cerebellum; Neurodegeneration; Spinocerebellar ataxias; Subtypes.

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References

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The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

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The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

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