Author Profile

Sarah L. Mason

Affiliation: John van Geest Centre for Brain Repair, Cambridge, United Kingdom

Recent Posts

Novel Nut and Bolt Task Quantifies Motor Deficits in Premanifest and Manifest Huntington’s Disease

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Background: We investigated the use of a simple novel nut and bolt task in premanifest and manifest Huntington’s disease (HD) patients to detect and quantify motor impairments at all stages of the disease.

Methods: Premanifest HD (n=24), manifest HD (n=27) and control (n=32) participants were asked to screw a nut onto a bolt in one direction, using three different sized bolts with their left and right hand in turn.

Results: We identified some impairments at all stages of HD and in the premanifest individuals, deficits in the non-dominant hand correlated with disease burden scores.

Conclusion: This simple, cheap motor task was able to detect motor impairments in both premanifest and manifest HD and as such might be a useful quantifiable measure of motor function for use in clinical studies.

Cognitive follow up of a small cohort of Huntington’s disease patients over a 5 year period.

A small group of patients with manifest Huntington’s disease (HD) were followed longitudinally to assess cognitive decline in relation to time from disease diagnosis. This article looks at performance on a range of computerised and pencil and paper cognitive tasks in patients 5 years post diagnosis, who were assessed annually for a 5 year follow up period. The almost universal cognitive decline reported in other longitudinal studies of HD was not replicated in this study. It was proposed that longitudinal follow up in HD is complicated by the varying degree to which different tasks are able to withstand repeated administration; a finding which would have significant implications on study design in future trials of cognitive enhansing interventions.