title: The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.
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.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Lan
authors.initials: L
authors.lastname: Luo
authors.affiliation: Department of Basic and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu, China.|Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Jie
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan.
authors.forename: Raymond Y
authors.initials: RY
authors.lastname: Lo
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Karla P
authors.initials: KP
authors.lastname: Figueroa
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pulst
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.|Department of Neurology, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan.
authors.forename: Pei-Hsin
authors.initials: PH
authors.lastname: Kuo
authors.affiliation: Department of Neurology, University of California Los Angeles, California, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Perlman
authors.affiliation: Department of Neurology, Emory University, Atlanta, Georgia, USA.
authors.forename: George
authors.initials: G
authors.lastname: Wilmot
authors.affiliation: Department of Neurology, University of Chicago, Chicago, Illinois, USA.
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Gomez
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Schmahmann
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Henry
authors.initials: H
authors.lastname: Paulson
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Vikram G
authors.initials: VG
authors.lastname: Shakkottai
authors.affiliation: Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Ying
authors.affiliation: Department of Neurology, University of South Florida, Tampa, Florida, USA.
authors.forename: Theresa
authors.initials: T
authors.lastname: Zesiewicz
authors.affiliation: Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
authors.forename: Khalaf
authors.initials: K
authors.lastname: Bushara
authors.affiliation: Department of Neurology, University of California San Francisco, California, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Geschwind
authors.affiliation: Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, USA.
authors.forename: Guangbin
authors.initials: G
authors.lastname: Xia
authors.affiliation: Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, USA.
authors.forename: S H
authors.initials: SH
authors.lastname: Subramony
authors.affiliation: Houston Methodist Research Institute, Houston, Texas, USA.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Sheng-Han
authors.initials: SH
authors.lastname: Kuo
mesh_terms: D000328:Adult; D000368:Aged; D000067528:Ataxins / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012097:Repressor Proteins / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D000067528:Ataxins; D012097:Repressor Proteins
keywords: Cerebellum; Neurodegeneration; Spinocerebellar ataxias; Subtypes