Search Results - "Aguilera Rodríguez, Raul"
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Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients
Published in Movement disorders (01-06-2021)“…ABSTRACT Background Spinocerebellar ataxia type 2 is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene…”
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Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study
Published in Lancet neurology (01-05-2014)“…Summary Background The effects of ATXN2 expansion on the nervous system arise before the cerebellar syndrome can be diagnosed; however, progression of the…”
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Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24‐week, rater‐blinded, randomized, controlled trial
Published in Movement disorders (01-09-2018)“…ABSTRACT Background: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies…”
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Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2
Published in Oxidative medicine and cellular longevity (2021)“…Background. Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease presenting with redox imbalance. However, the nature and implications of redox…”
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Normal ATXN2 alleles influences on the age at onset in spinocerebellar ataxia type 2
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Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients
Published in Cerebellum (London, England) (01-08-2020)“…Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Despite…”
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Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2
Published in Annals of clinical and translational neurology (01-02-2018)“…Objective Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In…”
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Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements
Published in Brain and cognition (01-11-2014)“…Although antisaccadic task is a sensitive research tool in psychopathology, it has not been systematically studied in patients with spinocerebellar ataxia type…”
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Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
Published in Neuroscience letters (24-04-2009)“…The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2…”
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Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study
Published in Journal of the neurological sciences (15-03-2010)“…Abstract Nerve conduction is profoundly affected in Spinocerebellar ataxia 2 (SCA2) even before the onset of the disease, but there is no information regarding…”
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Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions
Published in Journal of the neurological sciences (15-07-2011)“…Abstract Data on saccadic latency in patients with Spinocerebellar Ataxia 2 (SCA2) are sparse and contradictory. In order to determine whether saccadic latency…”
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Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity
Published in Frontiers in neurology (13-06-2017)“…Spinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as…”
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Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias
Published in Journal of genetic counseling (01-06-2011)“…Predictive testing protocols are intended to help patients affected with hereditary conditions understand their condition and make informed reproductive…”
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One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2
Published in Journal of the neurological sciences (15-02-2020)“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder due to a CAG-repeat expansion. This work is intended to identify modifiers of the clinical…”
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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2
Published in Journal of the neurological sciences (15-01-2017)“…Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by a CAG repeat expansion in ATXN2 gene. There is high clinical variability among affected…”
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Strategy use, planning, and rule acquisition deficits in spinocerebellar ataxia type 2 patients
Published in Journal of the International Neuropsychological Society (01-03-2015)“…Our goal was to improve spinocerebellar ataxia type 2 (SCA2) cognitive profile characterization by testing the hypothesis that strategy, planning and rule…”
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Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2
Published in Archives of medical research (01-04-2017)“…Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific…”
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Sleep disorders in spinocerebellar ataxia type 2 patients
Published in Neuro-degenerative diseases (01-01-2011)“…Sleep disturbances are common features in spinocerebellar ataxias (SCAs). Nevertheless, sleep data on SCA2 come from scarce studies including few patients,…”
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Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial
Published in Neurochemical research (01-10-2011)“…Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and…”
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SCA2 predictive testing in Cuba: challenging concepts and protocol evolution
Published in Journal of community genetics (01-07-2015)“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57…”
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