Search Results - "González Zaldivar, Yanetza"
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Gene Therapy for Polyglutamine Spinocerebellar Ataxias: Advances, Challenges, and Perspectives
Published in Movement disorders (01-12-2021)“…ABSTRACT Polyglutamine spinocerebellar ataxias (SCAs) comprise a heterogeneous group of six autosomal dominant ataxias caused by cytosine–adenine–guanine…”
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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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Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials
Published in Movement disorders (01-04-2016)“…ABSTRACT Background Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but it is unclear how these alterations…”
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On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients
Published in Brain sciences (01-01-2024)“…(1) Background: Spinocerebellar ataxias (SCA) is a term that refers to a group of hereditary ataxias, which are neurological diseases characterized by…”
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Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale
Published in Cerebellum (London, England) (01-06-2022)“…The cerebellar cognitive affective syndrome scale (CCAS-S) was designed to detect specific cognitive dysfunctions in cerebellar patients but is scarcely…”
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Early corticospinal tract damage in prodromal SCA2 revealed by EEG-EMG and EMG-EMG coherence
Published in Clinical neurophysiology (01-12-2017)“…•Corticospinal tract integrity was tested using EEG-EMG and EMG-EMG coherence.•SCA2 patients and prodromal SCA2 mutation carriers had reduced EEG-EMG and…”
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Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances
Published in Sleep medicine (01-08-2019)“…Sleep spindles and K-complexes are electroencephalographic hallmarks of non-rapid eye movement (non-REM) sleep that provide valuable information into brain…”
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Peripheral Inflammation Links with the Severity of Clinical Phenotype in Spinocerebellar Ataxia 2
Published in Movement disorders (01-05-2023)“…ABSTRACT Background The role of peripheral inflammation in spinocerebellar ataxia type 2 (SCA2) is unknown. Objective The objective of this study was to…”
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Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: a cross-sectional cohort study
Published in Nutritional neuroscience (03-08-2022)“…Body weight changes occur frequently during advanced stages of Spinocerebellar Ataxia type 2 (SCA2), nevertheless limited information exists on biomarkers of…”
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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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Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2
Published in Cerebellum (London, England) (01-04-2017)“…Clinical signs of corticospinal tract dysfunction are a common feature of spinocerebellar ataxia type 2 (SCA2) patients. The objective of this study is to…”
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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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De novo mutations in ataxin-2 gene and ALS risk
Published in PloS one (06-08-2013)“…Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated…”
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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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Normal ATXN2 alleles influences on the age at onset in spinocerebellar ataxia type 2
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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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Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications
Published in Human genetics (01-04-2012)“…Pathogenic CAG (cytosine-adenine-guanine) expansions beyond certain thresholds in the ataxin-2 (ATXN2) gene cause spinocerebellar ataxia type 2 (SCA2) and were…”
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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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Uncommon features in Cuban families affected with Friedreich ataxia
Published in Neuroscience letters (19-03-2010)“…This report describes two families who presented with autosomal recessive ataxia. By means of Polymerase Chain Reaction (PCR) molecular testing we identified…”
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Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience
Published in Journal of community genetics (01-10-2013)“…Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic…”
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