The preclinical stage of spinocerebellar ataxias

RP Maas, J van Gaalen, T Klockgether… - Neurology, 2015 - AAN Enterprises
The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of
degenerative diseases of the cerebellum and connected regions. The discovery of various …

[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 …

Prodromal spinocerebellar ataxia type 2 subjects have quantifiable gait and postural sway deficits

L Velázquez‐Pérez, R Rodriguez‐Labrada… - Movement …, 2021 - Wiley Online Library
Background The search for valid preclinical biomarkers of cerebellar dysfunction is a key
research goal for the upcoming era of early interventional approaches in spinocerebellar …

[HTML][HTML] The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients

RP Maas, S Killaars, BPC van de Warrenburg… - Journal of …, 2021 - Springer
Background The cerebellar cognitive affective syndrome scale (CCAS-S) was recently
developed to detect specific neuropsychological deficits in patients with cerebellar diseases …

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 …

[HTML][HTML] Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

G Coarelli, A Brice, A Durr - F1000Research, 2018 - ncbi.nlm.nih.gov
Recent advances in understanding dominant spinocerebellar ataxias from clinical and
genetic points of view - PMC Back to Top Skip to main content NIH NLM Logo Access keys …

Hereditary ataxias in Cuba: a nationwide epidemiological and clinical study in 1001 patients

L Velázquez-Pérez, J Medrano-Montero… - The Cerebellum, 2020 - Springer
The prevalence estimations of hereditary ataxias are biased since most epidemiological
studies are confined to isolated geographical regions and few nationwide studies are …

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 …

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

K Reetz, R Rodríguez‐Labrada, I Dogan… - Annals of clinical …, 2018 - Wiley Online Library
Objective Spinocerebellar ataxia type 2 (SCA 2) is an autosomal dominantly inherited
neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban …

[HTML][HTML] Clinical cerebellar neuroscience: cognitive functioning in spinocerebellar ataxias: an update and future directions

LP Selvadurai, JD Schmahmann, IH Harding - Current Opinion in …, 2024 - Elsevier
Highlights•Cognitive impairment in SCAs is well-established, but not universal in all
patients.•The CCAS Scale is the current standard for identifying cognitive impairments in …