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

Highlights•Cognitive impairment in SCAs is well-established, but not universal in all
patients.•The CCAS Scale is the current standard for identifying cognitive impairments in …

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 …

ABSTRACT Background and Objectives Spinocerebellar ataxias (SCAs) are autosomal
dominant disorders with extensive clinical and genetic heterogeneity. We recently identified …

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 …

Objectives Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant
neurodegenerative disease. Objective surrogate markers sensitive to detect changes in …

Triplet repeat diseases (TRDs) refer to a group of diseases caused by three nucleotide
repeats elongated beyond a pathologic threshold. TRDs are divided into the following four …

Background Clinical trials for upcoming disease‐modifying therapies of spinocerebellar
ataxias (SCA), a group of rare movement disorders, lack endpoints sensitive to early disease …

Characterizing bedside oculomotor deficits is a critical factor in defining the clinical
presentation of hereditary ataxias. Quantitative assessments are increasingly available and …

Heterogeneity is one of the key features of the healthy brain and selective vulnerability
characterizes many, if not all, neurodegenerative diseases. While cerebellum contains …