title: Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.
abstract: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. Pathological studies have demonstrated not only cerebellar and brainstem atrophy, but substantia nigra, motoneurons, basal ganglia, thalamus, and peripheral nerves involvement. These findings may explain non-motor and extra-cerebellar features in SCA2. We accessed the non-motor symptoms and extra-cerebellar signs in SCA2 patients in order to provide a better understanding on pathophysiological mechanisms and natural history of brain degeneration in the disease. Thirty-three SCA2 patients were evaluated and compared with 26 healthy subjects. We investigated the following variables: sleep disorders, cognitive deficit, olfactory impairment, urinary dysfunction, psychiatric symptoms, cramps, pain, movement disorders, and weight loss. SCA2 had a high frequency of REM sleep behavior disorder (48.48 %, N = 16) as well as excessive daytime sleepiness (42.42 %, N = 14). Chorea was present in 15.15 % (N = 5), dystonia in 27.27 % (N = 9), and parkinsonism in 27.27 % (N = 9). Slow saccadic pursuit was present in 87.87 % (N = 29) and ophtalmoparesis in 78.78 % (N = 26) of patients. Regarding sleep disorders, 18.18 % (N = 6) of patients had restless leg syndrome. Dysphagia was present in 39.39 % (N = 13), weight loss 24.24 % (N = 8), and urinary dysfunction 27.27 % (N = 9). Cramps was present in only 6 % of patients (N = 2). This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition.
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil. jlpedroso.neuro@gmail.com.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.|Center of Health Sciences, Universidade Estadual do Ceará, CE, Brazil.
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Marcio Luiz
authors.initials: ML
authors.lastname: Escorcio-Bezerra
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Agessandro
authors.initials: A
authors.lastname: Abrahão
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Marcus Vinicius Cristino
authors.initials: MV
authors.lastname: de Albuquerque
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Flavio Moura Rezende
authors.initials: FM
authors.lastname: Filho
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Paulo Victor Sgobbi
authors.initials: PV
authors.lastname: de Souza
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Wladimir Bocca Vieira
authors.initials: WB
authors.lastname: de Rezende Pinto
authors.affiliation: Department of Neurophysiology and Department of Neurosurgery, Fundação Beneficente, Hospital de Cirurgia, Aracaju, SE, Brazil.
authors.forename: Franklin Roberto Pereira
authors.initials: FR
authors.lastname: Borges
authors.affiliation: Department of Biochemistry and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.affiliation: Department of Internal Medicine and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Laura Bannach
authors.initials: LB
authors.lastname: Jardim
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D008609:Mental Status Schedule; D011569:Psychiatric Status Rating Scales; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000503:physiopathology* / Q000523:psychology
keywords: Extra-cerebellar signs; Non-motor symptoms; SCA2; Spinocerebellar ataxia type 2
references.citation: Mov Disord. 2013 Aug;28(9):1200-8
references.pmid: 23775899
references.citation: Parkinsonism Relat Disord. 2013 Sep;19(9):834-5
references.pmid: 23726256
references.citation: J Neurol Sci. 2013 Jan 15;324(1-2):90-3
references.pmid: 23137414
references.citation: Neurodegener Dis. 2011;8(6):447-54
references.pmid: 21494015
references.citation: Sleep. 1991 Dec;14(6):540-5
references.pmid: 1798888
references.citation: Cerebellum. 2014 Oct;13(5):568-79
references.pmid: 24906824
references.citation: Mol Neurobiol. 2013 Feb;47(1):90-104
references.pmid: 22996397
references.citation: Cerebellum. 2014 Feb;13(1):17-28
references.pmid: 23943520
references.citation: Rev Neurol. 2001 Sep 1-15;33(5):428-34
references.pmid: 11727209
references.citation: Lancet Neurol. 2014 May;13(5):482-9
references.pmid: 24657153
references.citation: Cerebellum. 2010 Sep;9(3):433-42
references.pmid: 20502998
references.citation: Mov Disord. 2003 Dec;18(12):1520-2
references.pmid: 14673890
references.citation: Mov Disord. 2011 Apr;26(5):792-800
references.pmid: 21370272
references.citation: Mov Disord. 2007 Dec;22(16):2386-93
references.pmid: 17894337
references.citation: Arq Neuropsiquiatr. 2011 Apr;69(2A):253-7
references.pmid: 21537570
references.citation: J Neurol. 2006 Sep;253(9):1165-9
references.pmid: 16609806
references.citation: J Neurol Neurosurg Psychiatry. 2012 Oct;83(10 ):970-4
references.pmid: 22791905
references.citation: Cerebellum. 2014 Aug;13(4):447-51
references.pmid: 24604677
references.citation: Mov Disord. 2008 Dec 15;23 (16):2328-34
references.pmid: 18785265
references.citation: Neuro Endocrinol Lett. 2011;32(3):354-9
references.pmid: 21712788
references.citation: Mov Disord. 2015 Apr 15;30(5):662-70
references.pmid: 25773989
references.citation: Neurology. 2008 Sep 23;71(13):982-9
references.pmid: 18685131
references.citation: Neurology. 2015 Jul 7;85(1):96-103
references.pmid: 26062625
references.citation: Eur Neurol. 2014;72(5-6):360-2
references.pmid: 25322786
references.citation: Arq Neuropsiquiatr. 2010 Apr;68(2):228-30
references.pmid: 20464290
references.citation: Neuropathol Appl Neurobiol. 2013 Oct;39(6):634-43
references.pmid: 23363055
references.citation: Parkinsonism Relat Disord. 2013 Feb;19(2):158-64
references.pmid: 23000299
references.citation: Parkinsonism Relat Disord. 2013 Aug;19(8):742-5
references.pmid: 23680416
references.citation: J Neurol Sci. 2008 Dec 15;275(1-2):60-3
references.pmid: 18755482
references.citation: Cerebellum. 2008;7(2):115-24
references.pmid: 18418684
references.citation: Cerebellum. 2012 Sep;11(3):771-4
references.pmid: 22090366
references.citation: Acta Neuropathol. 2012 Jul;124(1):1-21
references.pmid: 22684686
references.citation: J Neurol Sci. 2014 Dec 15;347(1-2):356-8
references.pmid: 25456461
references.citation: Lancet Neurol. 2004 May;3(5):291-304
references.pmid: 15099544