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 …
C Wilke, D Pellerin, D Mengel, A Traschütz, MC Danzi… - Brain, 2023 - academic.oup.com
Ataxia due to an autosomal dominant intronic GAA repeat expansion in FGF14 [GAA-FGF14 ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the …
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 …
K Reetz, I Dogan, AS Costa, M Dafotakis… - The Lancet …, 2015 - thelancet.com
Background Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical …
Summary Background Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited, fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the …
G Coarelli, A Heinzmann, C Ewenczyk… - The Lancet …, 2022 - thelancet.com
Background Riluzole has been reported to be beneficial in patients with cerebellar ataxia; however, effectiveness in individual subtypes of disease is unclear due to heterogeneity in …
Repeated sessions of cerebellar anodal transcranial direct current stimulation (tDCS) have been suggested to modulate cerebellar-motor cortex (M1) connectivity and decrease ataxia …
H Garcia‐Moreno, M Prudencio… - European journal of …, 2022 - Wiley Online Library
Background and purpose Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures. Methods To evaluate total tau (t‐tau), glial …
D Pellerin, F Heindl, C Wilke, MC Danzi, A Traschütz… - …, 2024 - thelancet.com
Background GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥ 250 expansions in the fibroblast growth …