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 …

[HTML][HTML] 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 …

Eye movements in neurodegenerative diseases

MR MacAskill, TJ Anderson - Current opinion in neurology, 2016 - journals.lww.com
Eye movements in neurodegenerative diseases : Current Opinion in Neurology Eye
movements in neurodegenerative diseases : Current Opinion in Neurology Log in or Register …

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 …

[HTML][HTML] Antisaccades in Parkinson's disease: a meta-analysis

J Waldthaler, L Stock, J Student, J Sommerkorn… - Neuropsychology …, 2021 - Springer
The usefulness of eye-tracking tasks as potential biomarkers for motor or cognitive disease
burden in Parkinson's disease (PD) has been subject of debate for many years. Several …

Cognitive decline is closely associated with ataxia severity in spinocerebellar ataxia type 2: a validation study of the Schmahmann Syndrome Scale

R Rodríguez-Labrada, A Batista-Izquierdo… - The Cerebellum, 2022 - Springer
The cerebellar cognitive affective syndrome scale (CCAS-S) was designed to detect specific
cognitive dysfunctions in cerebellar patients but is scarcely validated in spinocerebellar …

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 …

Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders

EE Robertson, DA Hall, AR McAsey… - The Clinical …, 2016 - Taylor & Francis
Objective: The purpose of this paper is to review the typical cognitive and motor impairments
seen in fragile X-associated tremor/ataxia syndrome (FXTAS), essential tremor (ET) …

Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances

R Rodríguez-Labrada, L Galicia-Polo… - Sleep medicine, 2019 - Elsevier
Background Sleep spindles and K-complexes are electroencephalographic hallmarks of
non-rapid eye movement (non-REM) sleep that provide valuable information into brain …

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 …