6 research outputs found
Ataxia cerebelar associada ao anticorpo anti-ácido glutâmico descarboxilase (anti-gad): melhora parcial após tratamento com imunoglobulina endovenosa
Universidade Federal de São Paulo (UNIFESP) Division of General Neurology and Ataxias Department of Neurology and NeurosurgeryUNIFESP, Division of General Neurology and Ataxias Department of Neurology and NeurosurgerySciEL
Sinal hipertenso do vérmis cerebelar superior na sequência FLAIR em um paciente com degeneração cerebelar paraneoplásica
Universidade Federal de São Paulo (UNIFESP) Department of Neurology Ataxia UnitUNIFESP, Department of Neurology Ataxia UnitSciEL
Teaching NeuroImages: A prematurely aging patient presenting with severe leukoaraiosis and stroke
Universidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, BrazilHosp Sick Children, Toronto, ON M5G 1X8, CanadaUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, São Paulo, BrazilWeb of Scienc
Nonmotor and extracerebellar features in Machado-Joseph disease: A review
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. the main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. in addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. (c) 2013 Movement Disorder SocietyUniversidade Federal de São Paulo, Dept Neurol, Gen Neurol & Ataxia Unit, São Paulo, BrazilUniv Campinas Unicamp, Dept Neurol, São Paulo, BrazilUniv Fed Rio Grande do Sul, Dept Biochem, Porto Alegre, RS, BrazilHosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Postgrad Program Med Sci, Porto Alegre, RS, BrazilUniv Fed Parana UFPR, Hosp Clin, Dept Internal Med, Movement Disorders Unit, Curitiba, Parana, BrazilUniv Fed Minas Gerais, Dept Internal Med, Fac Med, Cognit & Behav Neurol Unit, Belo Horizonte, MG, BrazilUniv Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, BrazilUniv Campinas UNICAMP, Sch Med Sci, Dept Med Genet, Campinas, SP, BrazilUniversidade Federal de São Paulo, Dept Neurol, Gen Neurol & Ataxia Unit, São Paulo, BrazilWeb of Scienc