Consensus paper: revisiting the symptoms and signs of cerebellar syndrome

F Bodranghien, A Bastian, C Casali, M Hallett… - The Cerebellum, 2016 - Springer
The cerebellum is involved in sensorimotor operations, cognitive tasks and affective
processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent …

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 …

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

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 …

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 …

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline …

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 …

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

H Jacobi, K Reetz, ST du Montcel, P Bauer… - The Lancet …, 2013 - thelancet.com
Summary Background Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited,
fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the …

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

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 …

[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 …

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

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 …

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

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 …