Search Results - "Laffita Mesa, Jose M."
-
1
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…”
Get full text
Journal Article -
2
Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease
Published in Cerebellum (London, England) (01-10-2014)“…The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population…”
Get full text
Journal Article -
3
Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers
Published in Movement disorders (01-02-2011)“…Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not…”
Get full text
Journal Article -
4
Plasma metabolomics of presymptomatic PSEN1‐H163Y mutation carriers: a pilot study
Published in Annals of clinical and translational neurology (01-03-2021)“…Background and Objective PSEN1‐H163Y carriers, at the presymptomatic stage, have reduced 18FDG‐PET binding in the cerebrum of the brain (Scholl et al.,…”
Get full text
Journal Article -
5
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…”
Get full text
Journal Article -
6
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…”
Get full text
Journal Article -
7
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,…”
Get more information
Journal Article -
8
Genetic features of Huntington disease in Cuban population: Implications for phenotype, epidemiology and predictive testing
Published in Journal of the neurological sciences (15-12-2013)“…Abstract Huntington disease is the most frequent polyglutamine disorder with variable worldwide prevalence. Although some Latin American populations have been…”
Get full text
Journal Article -
9
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…”
Get full text
Journal Article -
10
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease
Published in Cerebellum & ataxias (21-02-2015)“…Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the…”
Get full text
Journal Article -
11
Caracterización integral de la ataxia espinocerebelosa 2 en Cuba y su aplicación en proyectos de intervención
Published in Revista cubana de salud pública (01-09-2011)Get full text
Journal Article -
12
Caracterización integral de la ataxia espinocerebelosa 2 en Cuba y su aplicación en proyectos de intervención
Published in Revista cubana de salud pública (01-09-2011)“…Introducción Cuba es el país con mayores tasas de prevalencia e incidencia para las ataxias hereditarias, lo que constituye un problema de salud que motivó la…”
Get full text
Journal Article