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 …

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 …

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

H Jacobi, ST du Montcel, P Bauer, P Giunti… - The Lancet …, 2015 - thelancet.com
Background Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases.
As potential treatments for these diseases are being developed, precise knowledge of their …

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

S Romano, G Coarelli, C Marcotulli, L Leonardi… - The Lancet …, 2015 - thelancet.com
Background Our previous study in patients with cerebellar ataxias of different causes
showed significant benefit of riluzole after 8 weeks. We aimed to confirm these results in …

[HTML][HTML] Hereditary ataxias: overview

S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

[HTML][HTML] Measurement properties of the EQ VAS around the globe: a systematic review and meta-regression analysis

LJ Cheng, RLY Tan, N Luo - Value in Health, 2021 - Elsevier
Objectives This study aimed to synthesize and evaluate published evidence on the
measurement properties of the EQ VAS, a component of all EQ-5D questionnaires. Methods …

[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 …

Assessment of ataxia rating scales and cerebellar functional tests: critique and recommendations

S Perez‐Lloret, B Van de Warrenburg… - Movement …, 2021 - Wiley Online Library
Background We assessed the clinimetric properties of ataxia rating scales and functional
tests, and made recommendations regarding their use. Methods A systematic literature …

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

K Reetz, I Dogan, RD Hilgers, P Giunti… - The Lancet …, 2016 - thelancet.com
Summary Background The European Friedreich's Ataxia Consortium for Translational
Studies (EFACTS) is a prospective international registry investigating the natural history of …

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

T Ashizawa, KP Figueroa, SL Perlman… - Orphanet journal of rare …, 2013 - Springer
Abstract Background All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6
are the four most common SCAs, all caused by expanded polyglutamine-coding CAG …