Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

[HTML][HTML] Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: a randomized, double-blind, sham-controlled trial

RP Maas, S Teerenstra, I Toni, T Klockgether… - …, 2022 - Elsevier
Repeated sessions of cerebellar anodal transcranial direct current stimulation (tDCS) have
been suggested to modulate cerebellar-motor cortex (M1) connectivity and decrease ataxia …

[HTML][HTML] Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia

S Karamazovova, V Matuskova, Z Ismail… - … & Biobehavioral Reviews, 2023 - Elsevier
Apart from its role in motor coordination, the importance of the cerebellum in cognitive and
affective processes has been recognized in the past few decades. Spinocerebellar ataxias …

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 …

Depression and clinical progression in spinocerebellar ataxias

RY Lo, KP Figueroa, SM Pulst, S Perlman… - Parkinsonism & related …, 2016 - Elsevier
Background Depression is a common comorbidity in spinocerebellar ataxias (SCAs) but its
association with ataxia progression is not well understood. Objectives To study the …

Consensus paper: ataxic gait

P Cabaraux, SK Agrawal, H Cai, RS Calabro, C Casali… - The Cerebellum, 2023 - Springer
The aim of this consensus paper is to discuss the roles of the cerebellum in human gait, as
well as its assessment and therapy. Cerebellar vermis is critical for postural control. The …

Safety and efficacy of acetyl-DL-leucine in certain types of cerebellar ataxia: the ALCAT randomized clinical crossover trial

K Feil, C Adrion, S Boesch, S Doss… - JAMA network …, 2021 - jamanetwork.com
Importance Cerebellar ataxia is a neurodegenerative disease impairing motor function
characterized by ataxia of stance, gait, speech, and fine motor disturbances. Objective To …

Affective and anxiety disorders in patients with different rare chronic diseases: a systematic review and meta-analysis

N Uhlenbusch, J Swaydan, A Höller, B Löwe… - Psychological …, 2021 - cambridge.org
We aimed to identify the prevalence of affective and anxiety disorders across different rare
disease and identify correlates of psychopathology. We performed a systematic review and …

Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2

R Fancellu, D Paridi, C Tomasello, M Panzeri… - Journal of …, 2013 - Springer
The role of the cerebellum in cognition, both in healthy subjects and in patients with
cerebellar diseases, is debated. Neuropsychological studies in spinocerebellar ataxia type 1 …