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 …
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 …
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 …
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 …
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 …
Repeated sessions of cerebellar anodal transcranial direct current stimulation (tDCS) have been suggested to modulate cerebellar-motor cortex (M1) connectivity and decrease ataxia …
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 …
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 …
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 …