A5090252642- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Autoimmune Neurological Disorders and Treatments
- Vestibular and auditory disorders
- Genomics and Rare Diseases
- Health and Medical Education
- Amyotrophic Lateral Sclerosis Research
- Metabolism and Genetic Disorders
- Sleep and Wakefulness Research
- Transcranial Magnetic Stimulation Studies
- Neurological and metabolic disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Cerebrovascular and genetic disorders
- Glycogen Storage Diseases and Myoclonus
- Long-Term Effects of COVID-19
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- Traditional Chinese Medicine Studies
- Biochemical Analysis and Sensing Techniques
- Aging, Health, and Disability
- Endoplasmic Reticulum Stress and Disease
- Musculoskeletal pain and rehabilitation
Cuban Neuroscience Center
2006-2024
University of Havana
2021-2024
ORCID
2021
Hertie Institute for Clinical Brain Research
2020
The University of Melbourne
2020
University of Tübingen
2020
Universidad de Oriente
2019
University of Holguín
2001-2019
Erasmus MC
2014
Center for Research and Advanced Studies of the National Polytechnic Institute
2014
Familial Alzheimer’s disease (FAD) is characterized by autosomal dominant heritability and early onset. Mutations in the gene encoding presenilin-1 (PS1) are found approximately 80% of cases FAD, with some these patients presenting cerebellar damage amyloid plaques ataxia unclear pathophysiology. A Colombian kindred carrying PS1-E280A mutation largest known cohort PS1-FAD patients. Here, we investigated PS1-E280A–associated dysfunction that it occurs PS1-E208A carriers, while signs highly...
Quantitative assessment of severity ataxia-specific gait impairments from wearable technology could provide sensitive performance outcome measures with high face validity to power clinical trials.The aim this study was identify a set body-worn inertial sensors that best discriminate between people prodromal or manifest spinocerebellar ataxia (SCA) and age-matched, healthy control subjects (HC) determine how these relate disease severity.One hundred sixty-three SCA (subtypes 1, 2, 3, 6), 42...
Abstract Background The search for valid preclinical biomarkers of cerebellar dysfunction is a key research goal the upcoming era early interventional approaches in spinocerebellar ataxias. This study aims to describe novel subtle gait and postural sway abnormalities prodromal ataxia type 2 (pre‐SCA2). Methods Thirty pre‐SCA2 patients their matched healthy controls underwent quantitative assessments using wearable sensor‐based system semiquantitative evaluation features by SARA (Scale...
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, score, age, sex. Little overlap with normal values was found even earliest stages. Stepwise linear regression analysis showed that 60-degree MSV strongly influenced by size less whereas the reverse for score. Saccade thus is a sensitive, quite specific, objective endophenotype, useful search modifier genes.
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns associations with clinical measures in preclinical manifest SCA2.In study, 16 nonmanifest SCA2 mutation carriers, 26 patients SCA2, 18 healthy control subjects underwent magnetic resonance imaging, as well genetic characterization including assessment of (Scale...
ABSTRACT Background : Neurorehabilitation has become in a widely used approach spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. Objective The objective of study was to assess the efficacy 24‐week neurorehabilitative treatment ataxia type 2 patients. Methods A total 38 patients were enrolled rater‐blinded, 1:1 randomized, controlled trial using neurorehabilitation for 24 weeks. treated group received 6 hours therapy, emphasizing on balance,...
Sleep disturbances are common features in spinocerebellar ataxias (SCAs). Nevertheless, sleep data on SCA2 come from scarce studies including few patients, limiting the evaluation of prevalence and determinants disorders.To assess frequency possible disorders large homogeneous Cuban population.Thirty-two patients their age- sex-matched controls were studied by video-polysomnography interviews.The most striking rapid eye movement (REM) pathology periodic leg movements (PLMs). REM...
ABSTRACT Background Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but it is unclear how these alterations progress over time. The aim of this study was to assess the progression saccade involvement 2 patients, identify its main determinants, and evaluate usefulness as outcome measures clinical trials. Methods A prospective 5‐year follow‐up performed 30 their matched healthy controls, who were evaluated a total four times by...
ABSTRACT Background The role of peripheral inflammation in spinocerebellar ataxia type 2 (SCA2) is unknown. Objective objective this study was to identify biomarkers and their relationship with the clinical molecular features. Methods Blood cell count–derived inflammatory indices were measured 39 SCA2 subjects matched controls. Clinical scores ataxia, nonataxia, cognitive dysfunction assessed. Results neutrophil‐to‐lymphocyte ratio (NLR), platelet‐to‐lymphocyte (PLR), Systemic Inflammation...
Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not been studied in presymptomatic gene carriers. To determine whether the REM pathology is detectable before clinical manifestation of SCA2 and evaluate it as a preclinical biomarker, we 36 individuals controls by video-polysomnography (VPSG) questionnaires. Presymptomatic subjects showed significant decrease percentage, REMs density,...
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders. CAG (cytosine-adenine-guanine) trinucleotide repeat expansions in the causative genes have been identified as cause different SCA. In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying fluorescent multiplex polymerase chain reaction assay. We analyzed 10 families with SCA (64 patients) from five communities Veracruz, Mexican southeastern state, 55 patients for 9 but none or...
Abstract Background Several neuropathological studies in spinocerebellar ataxia type 2 (SCA2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions frontal lobe. However, impact neurodegeneration on functional integration remaining tissue is unknown. To analyze clinical these changes, we correlated abnormal connectivity found SCA2 patients with their scores scales. obtain followed two approaches. In one used areas cerebellar gray matter as...