Recent investigations have defined the pathophysiological basis of many hereditary ataxias
(HAs), including loss-of-function as well as gain-of-function mechanisms at either the RNA or …

Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific
combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause …

Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia
(SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 …

Background SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least
250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to …

Background: Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal
dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum …

Objectives Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast
growth factor 14 (FGF14) gene has recently been recognized as a common cause of late …

Background With disease‐modifying drugs in reach for cerebellar ataxias, fine‐grained
digital health measures are highly warranted to complement clinical and patient‐reported …

Importance Reliable biomarkers with diagnostic and prognostic values are needed for
upcoming gene therapy trials for spinocerebellar ataxias. Objective To identify …

Background and Objectives Brain MRI abnormalities and increases in neurofilament light
chain (NfL) have mostly been observed in cross-sectional studies before ataxia onset in …

Spinocerebellar ataxias (SCA) are most frequently due to (CAG) n (coding for polyglutamine,
polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) …