Spinocerebellar ataxia
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Polyglutamine spinocerebellar ataxias—from genes to potential treatments
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
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 …
ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the …
Spinocerebellar ataxias: prospects and challenges for therapy development
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
Quantitative gait and balance outcomes for ataxia trials: consensus recommendations by the ataxia global initiative working group on digital-motor biomarkers
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid,
finely granulated, digital health measures are highly warranted to augment clinical and …
finely granulated, digital health measures are highly warranted to augment clinical and …
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors
Background Quantitative assessment of severity of ataxia‐specific gait impairments from
wearable technology could provide sensitive performance outcome measures with high face …
wearable technology could provide sensitive performance outcome measures with high face …
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA 3),
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
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 …
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
Repeated sessions of cerebellar anodal transcranial direct current stimulation (tDCS) have
been suggested to modulate cerebellar-motor cortex (M1) connectivity and decrease ataxia …
been suggested to modulate cerebellar-motor cortex (M1) connectivity and decrease ataxia …