Spinocerebellar ataxias: prospects and challenges for therapy development
T Ashizawa, G Öz, HL Paulson - Nature Reviews Neurology, 2018 - nature.com
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches
LC Velázquez-Pérez, R Rodríguez-Labrada… - Frontiers in …, 2017 - frontiersin.org
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
Erythropoietin in Spinocerebellar ataxia Type 2: Feasibility and Proof‐of‐Principle Issues from a Randomized Controlled Study
R Rodriguez‐Labrada, R Ortega‐Sanchez… - Movement …, 2022 - Wiley Online Library
Background Several pieces of evidence have shown the neurotrophic effect of erythropoietin
(EPO) and its introduction in the therapeutic practice of neurological diseases. However, its …
(EPO) and its introduction in the therapeutic practice of neurological diseases. However, its …
Ophthalmic manifestations and genetics of the polyglutamine autosomal dominant spinocerebellar ataxias: a review
JY Park, K Joo, SJ Woo - Frontiers in Neuroscience, 2020 - frontiersin.org
Spinocerebellar ataxia (SCA) is a part of the cerebellar neurodegenerative disease group
that is diverse in genetics and phenotypes. It usually shows autosomal dominant …
that is diverse in genetics and phenotypes. It usually shows autosomal dominant …
Spinocerebellar ataxia type 2: measures of saccade changes improve power for clinical trials
R Rodríguez‐Labrada, L Velázquez‐Pérez… - Movement …, 2016 - Wiley Online Library
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 …
spinocerebellar ataxia type 2, but it is unclear how these alterations progress over time. The …
In human and mouse spino-cerebellar tissue, ataxin-2 expansion affects ceramide-sphingomyelin metabolism
Ataxin-2 (human gene symbol ATXN2) acts during stress responses, modulating mRNA
translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity …
translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity …
Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial
L Velázquez-Pérez, J Rodríguez-Chanfrau… - Neurochemical …, 2011 - Springer
Abstract Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced
concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and …
concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and …
Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry
RE Mercadillo, V Galvez, R Díaz… - Journal of the …, 2014 - Elsevier
Abstract Spinocerebellar Ataxia Type 2 (SCA2) is a genetic disorder causing cerebellar
degeneration that result in motor and cognitive alterations. Voxel-based morphometry (VBM) …
degeneration that result in motor and cognitive alterations. Voxel-based morphometry (VBM) …
Eye movement changes in autosomal dominant spinocerebellar ataxias
F Rosini, E Pretegiani, C Battisti, MT Dotti… - Neurological …, 2020 - Springer
Oculomotor abnormalities are common findings in spinocerebellar ataxias (SCAs), a
clinically heterogeneous group of neurodegenerative disorders with an autosomal dominant …
clinically heterogeneous group of neurodegenerative disorders with an autosomal dominant …
EMG rectification is detrimental for identifying abnormalities in corticomuscular and intermuscular coherence in spinocerebellar ataxia type 2
Y Ruiz-Gonzalez, L Velázquez-Pérez… - The Cerebellum, 2020 - Springer
Corticomuscular and intermuscular coherence (CMC, IMC) reflect connectivity between
neuronal activity in the motor cortex measured by electroencephalography (EEG) and …
neuronal activity in the motor cortex measured by electroencephalography (EEG) and …