Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …

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

Parkinson's disease (PD) affects a significant proportion of the population over the age of 60
years, and its prevalence is increasing. While symptomatic treatment is available for motor …

Background Circular RNAs (circRNAs) have been reported to exert critical functions in
tumorigenesis and development. However, the underlying mechanism by which circRNAs …

Given the high morbidity related to the progression of gait deficits in spinocerebellar ataxias
(SCA), there is a growing interest in identifying biomarkers that can guide early diagnosis …

Genetic variation in the human leukocyte antigen (HLA) loci is associated with risk of
immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear …

The visual function of patients with infantile nystagmus (IN) can be significantly decreased
owing to constant eye movement. While, reaching a definitive diagnosis becomes a …

Recently, two missense mutations in NPTX1 were identified as a cause of autosomal
dominant cerebellar ataxia by triggering endoplasmic reticulum stress. 1 The NPTX1 …

Oculomotor apraxia (OMA) is a rare and heavily disabling neurological disorder causing
severe difficulties in the initiation and maintenance of voluntary eye movements when the …

SCH Ö GGL ET AL ataxia with an autosomal dominant inheritance pattern. 1, 2 Here, we
report on a child affected by early-onset ataxia and cerebellar atrophy since infancy, who …