Functional and cognitive capacity differ in dystonic motor subtypes when compared to choreatic and hypokinetic-rigid motor subtypes in Huntington's disease.

Jannis Achenbach,Sarah Maria Von Hein,Carsten Saft

doi:10.1002/brb3.1704

Abstract

BackgroundMotor phenotypes in Huntington's disease vary manifold. Phenotype classification is essential to adapt treatment. The aim of this study was to classify a dystonic subtype closer.MethodsA total of 7,512 manifest ENROLL‐HD participants were subdivided into mainly choreatic (N = 606), dystonic (N = 402), and hypokinetic‐rigid (N = 369) subjects. Cognitive (verbal fluency, symbol digit, stroop color, trail making, Mini‐Mental State Examination), functional (total functional capacity, Independence Scale), and psychiatric (problem behaviors assessment, Hospital Anxiety and Depression Scale) performance was evaluated at baseline visit.ResultsSymptoms onset for dystonic were similar to hypokinetic‐rigid, but earlier compared to choreatic subjects (p < .001). Cognition was better in both groups compared to hypokinetic rigid (all p < .001). Functionality differed between all groups (all p < .001). Differences remained (all p < .001) after controlling for CAP score, CAG, age, disease duration, and education.ConclusionsMotor subtypes differ in functional and cognitive capacities but less in psychiatric. We identified better cognitive and functional capacities and similar onsets in predominant dystonic compared to hypokinetic‐rigid patients.

Highlights

Neurodegenerative Huntington's disease (HD) is caused by CAG trinucleotide expansion in the huntingtin gene (HTT; Walker, 2007)
Zande et al (2017) described a high prevalence of dystonia as being a late symptom correlating with increasing HD stage and disease duration
We identified a large cohort (n = 661) of patients with interfering dystonic and hypokinetic-rigid motor subtypes which were excluded from our analysis

Summary

Introduction

Neurodegenerative Huntington's disease (HD) is caused by CAG trinucleotide expansion in the huntingtin gene (HTT; Walker, 2007). Hart et al (2013) focused on aspects of predominant choreatic versus hypokinetic-rigid motor phenotypes and described a better capacity for global and cognitive functioning of their choreatic group. No study compared three different phenotypes with predominant dystonia, chorea, and hypokinetic-rigidity which are essential for symptomatic treatments (Saft, von Hein, & Lucke, 2018; Wojtecki, Groiss, & Ferrea, 2015; Zittel et al, 2018). We investigated whether there are collectives in the European Huntington's Disease Network ENROLL-HD study classified as predominant choreatic, dystonic, and hypokinetic-rigid in order to compare cognitive, functional, and psychiatric performance data (Landwehrmeyer, Fitzer-Attas, & Giuliano, 2017). Conclusions: Motor subtypes differ in functional and cognitive capacities but less in psychiatric. We identified better cognitive and functional capacities and similar onsets in predominant dystonic compared to hypokinetic-rigid patients

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