The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …

Gene therapy has emerged as a promising therapeutic strategy for various conditions,
including blood disorders, ocular disease, cancer, and nervous system disorders. The …

With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid,
finely granulated, digital health measures are highly warranted to augment clinical and …

Background More than 50 loci are associated with spinocerebellar ataxia (SCA), and the
most frequent subtypes share nucleotide repeats expansion, especially CAG expansion …

Background Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of
autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood …

Objective This study was undertaken to identify magnetic resonance (MR) metrics that are
most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type …

Background The search for valid preclinical biomarkers of cerebellar dysfunction is a key
research goal for the upcoming era of early interventional approaches in spinocerebellar …

Background Clinical and regulatory acceptance of upcoming molecular treatments in
degenerative ataxias might greatly benefit from ecologically valid endpoints that capture …

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …