Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.
There is a lack of evidence that either conventional observational rating scale or biomechanical system is a better tremor assessment tool. This work focuses on comparing a biomechanical system and the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale in terms of test-retest reliability. The Parkinson's disease tremors were quantified by biomechanical system in joint angular displacement and predicted rating, as well as assessed by three raters using observational ratings. Qualitative comparisons of the validity and function are made also. The observational rating captures the overall severity of body parts, whereas the biomechanical system provides motion- and joint-specific tremor severity. The tremor readings of the biomechanical system were previously validated against encoders' readings and doctors' ratings; the observational ratings were validated with previous ratings on assessing the disease and combined motor symptoms rather than on tremor specifically. Analyses show that the predicted rating is significantly more reliable than the average clinical ratings by three raters. The comparison work removes some of the inconsistent impressions of the tools and serves as guideline for selecting a tool that can improve tremor assessment. Nevertheless, further work is required to consider more variabilities that influence the overall judgement.