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Comparative study of functional neuroimage, cognitive deficits and mental diseases in carriers of Illness of Machado Joseph and normal controls

Abstract

Spinocerebellar ataxias (SCA) are a group of neurodegenerative disease that affects the cerebellum, basal ganglia, brainstem and spicocerebellar tracts. The clinical picture of the SCA-3 includes cerebella ataxia, parkinsonism, dystonia, pyramidal signs, peripheral neuropathies and sleep disesase. Studies with cognitive alterations in patients with SCA 3 have demonstrated visuospatial, executive and language impairments. Neuroimage studies have demonstrated alterations of brainstem, basal ganglia and cortical regions. The present study work to investigate the cognitive deficits carrying in patients with SCA-3, evaluate the white matter substance integrity, correlate these alterations with findings of the neurological and psychiatric evaluations, beyond evaluating cerebral perfusion and dopaminergic neurons deficiencies through the SPECT. Thirty patients with clinical and genetic diagnosis of SCA-3 will be enclosed and thirty health controls. The patients will be evaluated through clinical history, neurological examination, cognitive tests, International Scale of Gravity for Ataxias (ICARS) and Structuralized Clinical Interview for DSM-IV (SCID-1).. The following cognitive tests will be applied by the same examiner: Mini-mental status examination ; Clock test; WAIS-III; Frontal assessmen battery (FAB); Raven's Progressive matrices; Stroop and Wisconsin tests; Rey complex figure; Trail making test; Blocks of Corsi; Verbal pairs associated. All the patients will be submitted by the examination of Brain Magnetic Resonance, Tensor Image Diffusion and SPECT with perfusion. SPECT with TRODAT will be submitted only on the patients. (AU)

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