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 syndr...Continue Reading
References
Dec 1, 1991·Sleep·M W Johns
Dec 16, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Joseph H FriedmanLewis R Sudarsky
Apr 22, 2004·Lancet Neurology·Ludger SchölsOlaf Riess
Apr 13, 2006·Journal of Neurology·Luis Velázquez-PérezRené Drucker-Colin
Sep 27, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Karin Stiasny-KolsterWolfgang H Oertel
Apr 18, 2008·The Cerebellum·Isabel Lastres-BeckerGeorg Auburger
Aug 8, 2008·Neurology·T Schmitz-HübschT Klockgether
Aug 30, 2008·Journal of the Neurological Sciences·G De JoannaG De Michele
Sep 12, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Laura Silveira-MoriyamaAndrew J Lees
May 14, 2010·Arquivos de neuro-psiquiatria·Pedro Braga-NetoOrlando Graziani Povoas Barsottini
May 27, 2010·The Cerebellum·Ina KlinkeChristoph Helmstaedter
Mar 4, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Judith van GaalenBart P van de Warrenburg
Apr 16, 2011·Neuro-degenerative Diseases·Luis Velázquez-PérezInka Tuin
May 4, 2011·Arquivos de neuro-psiquiatria·José L PedrosoOrlando G P Barsottini
Nov 18, 2011·The Cerebellum·Jonas Alex Morales SauteLaura Bannach Jardim
Jun 12, 2012·Acta Neuropathologica·Kay SeidelUdo Rüb
Jul 14, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Mariana MoscovichLaura Silveira-Moriyama
Sep 22, 2012·Molecular Neurobiology·J J MagañaB Cisneros
Sep 25, 2012·Parkinsonism & Related Disorders·Tao WuPiu Chan
Nov 10, 2012·Journal of the Neurological Sciences·José Luiz PedrosoOrlando Graziani Povoas Barsottini
Feb 1, 2013·Neuropathology and Applied Neurobiology·U RübW den Dunnen
May 18, 2013·Parkinsonism & Related Disorders·José Luiz PedrosoOrlando Graziani Povoas Barsottini
Jun 4, 2013·Parkinsonism & Related Disorders·José Luiz PedrosoOrlando G P Barsottini
Jun 19, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·José Luiz PedrosoOrlando Graziani P Barsottini
Aug 15, 2013·The Cerebellum·Raphael Machado de CastilhosUNKNOWN Rede Neurogenetica
Mar 25, 2014·Lancet Neurology·Luis Velázquez-PérezJosé M Laffita-Mesa
Jun 8, 2014·The Cerebellum·Luis Velázquez-PérezYanetza González-Zaldivar
Oct 18, 2014·European Neurology·Adriana MoroHélio A G Teive
Dec 3, 2014·Journal of the Neurological Sciences·José Luiz PedrosoOrlando G P Barsottini
Mar 17, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Isaac M AdanyeguhFanny Mochel
Jun 13, 2015·Neurology·Roderick P P W M MaasBart P C van de Warrenburg
Citations
Mar 4, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Luis Velázquez-PérezJosé Miguel Laffita-Mesa
Jul 26, 2019·Current Neurology and Neuroscience Reports·Lucio HuebraJosé Luiz Pedroso
Aug 11, 2017·Movement Disorders Clinical Practice·Alhassane DialloSophie Tezenas du Montcel
Nov 28, 2019·The Journal of International Medical Research·Shu-Ting Li, Yang Zhou
May 1, 2017·The Cerebellum·Thais L MonteUNKNOWN Rede Neurogenética
Jan 13, 2019·BMC Neurology·Kazumasa ShindoYoshihisa Takiyama
Aug 21, 2018·Journal of Clinical Movement Disorders·Nan ChengStephen G Reich
May 21, 2020·Neuroscience Bulletin·Li-Bin ZhangBo Hu
Jun 13, 2020·Neurology·Adam P VogelMatthis Synofzik
Dec 19, 2020·Annals of Clinical and Translational Neurology·Joana Afonso RibeiroJalesh N Panicker
Mar 24, 2021·Parkinsonism & Related Disorders·Albert StezinPramod Kumar Pal
Aug 24, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Vrutangkumar V ShahChristopher M Gomez