Assessment of graphomotor impairment in patients with Spinocerebellar ataxia and Parkinson’s disease
Objective: The study aimed to assess the kinematic characteristics of handwriting in patients with Spinocerebellar ataxia (SCA) and to compare it with patients with Parkinson's disease…Audiological Evaluation in Sporadic Ataxia
Objective: to describe the audiological and electrophysiological results in patients with sporadic ataxia (SA). Background: Patients with adult onset non-familial progressive ataxia are classified in…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…Targeting the intracellular localization of Ataxin-3 as novel treatment strategy for Spinocerebellar Ataxia Type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is an autosomal-dominantly inherited neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene…Prodromal criteria of spinocerebellar type 2: Lessons for physiopathology, natural history and therapeutical trials
Objective: To identify criteria defining the prodromal stage of spinocerebellar ataxia 2 (SCA2). Background: The prodromal stage of spinocerebellar ataxias has not been systematically studied…Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…Magnetic resonance imaging in spinocerebellar ataxias: A systematic review
Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…Sustained effects of cerebellar transcranial direct current stimulation in patients with ataxia: A randomized, double blind, sham-controlled study
Objective: The present study investigated whether a prolonged session of cerebellar anodal transcranial direct current stimulation (tDCS) could improve symptoms in patients with ataxia at…Abnormal findings in polisomnographic records of patients with spinocerebellar ataxia type 2 (SCA2)
Objective: The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Background: Similar to other…Cancer in Machado Joseph disease patients – Low frequency as a cause of death
Objective: To compare the 15 years cumulative incidence of cancer (CIC) and the proportion of cancer as a cause of death in symptomatic Spinocerebellar ataxia…