Investigating the use of the Ataxia Instrumented Measure – Spoon (AIM-S) in measuring upper limb function in Dentatorubral-pallidoluysian atrophy (DRPLA).
Ataxia UK
Murdoch Children's Research Institute
Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expanded CAG repeat in the ATN1 gene, resulting in a mutant protein (atrophin-1) with a polyglutamine expanded tract. DRPLA is an ultra-rare disease and information regarding its natural history is very limited. To better understand upper body function in an objective manner the Ataxia Instrumented Measure – Spoon (AIM-S) will be used to quantify upper limb motor control in the study participants. This work will be part of a larger project that aims to collect longitudinal data in the study participants and investigate a comprehensive set of biomarkers.
2.1 Biological and endogenous factors