Friedreich’s ataxia (FA) is a rare, autosomal recessive neurodegenerative disease that primarily affects children and adolescents in their transition to adulthood, which is associated with several adverse life events caused by the disease progression. This article aims to describe life events associated with FA and their impact on patient-reported outcomes in pediatric and adult onsets. A newly adapted Life Events Questionnair...

Background and Objectives: Friedreich ataxia (FA) causes progressive impairment of communication due to gradual deterioration of speech, associated with impaired hearing, socio-cognitive and language skills. There is an urgent need to investigate the impact of this multiparametric alteration on patients’ lives. Therefore, the COMunication and ATAXia measure (COMATAX) was developed and validated in French and German. Methods: I...

Background Little is known about the progression of health-related quality of life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge is crucial to identify modifiable factors promoting everyday life with SCA and attenuating HRQoL decline. Objectives This study is to assess HRQoL progression and identify factors affecting SCA patients’ HRQoL. Methods Longitudinal data (three-year follow-up) of 310 S...

Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence of the EQ-5D-3L validation performance is lacking in patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal...

With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The MRI Biomarkers Working Group of the Ataxia Global Initiative therefore devised guidelines to facilitate harmonized MRI data acquisition in clinical research and trials in ataxias. Recommenda...

With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The...