The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …

To accelerate and facilitate clinical trials, the Ataxia Global Initiative (AGI) was established
as a worldwide research platform for trial readiness in ataxias. One of AGI's major goals is …

Objective The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely
applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological …

Background Disease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined
by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known …

Background Several pieces of evidence have shown the neurotrophic effect of erythropoietin
(EPO) and its introduction in the therapeutic practice of neurological diseases. However, its …

Technologies that enable frequent, objective, and precise measurement of ataxia severity
would benefit clinical trials by lowering participation barriers and improving the ability to …

Objective To investigate the safety and efficacy of N-acetyl-l-leucine (NALL) on symptoms,
functioning, and quality of life in pediatric (≥ 6 years) and adult Niemann–Pick disease type …

Spinocerebellar ataxias (SCAs) represent a large group of hereditary degenerative diseases
of the nervous system, in particular the cerebellum, and other systems that manifest with a …

With disease-modifying approaches under evaluation in ataxia-telangiectasia and other
ataxias, there is a need for objective and reliable biomarkers of free-living motor function. In …

Background Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant
hereditary ataxia, and, thus far, effective treatment remains low. Repetitive transcranial …