Author Profile

Roger A. Barker

Affiliation: John van Geest Centre for Brain Repair, Cambridge, United Kingdom; School of Medical Sciences, Edith Cowan University, Perth, Western Australia, Australia

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.

Current Pharmacological Management in Juvenile Huntington’s Disease

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Background: The clinical presentation of Juvenile Huntington’s Disease (JHD) can be very different from adult-onset HD with little evidence to guide symptomatic management.

Aim: To survey the current use of pharmacological treatments for JHD.

Methods: Patients were identified through the HD Association, Hospital Doctors and the European Huntington’s Disease Network REGISTRY study.

Results: The most commonly prescribed agents were anti-psychotics (24/45), anti-depressants (17/45) and anti-parkinsonian medications (15/45). 5 patients were taking more than 8 medications.

Conclusions: The most commonly prescribed group of medication was the anti-psychotic. Many patients were on multiple therapies, highlighting the need to rationalise medications.

Body composition in premanifest Huntington’s disease reveals lower bone density compared to controls.

Huntington’s disease (HD) is a debilitating autosomal dominant, neurodegenerative disease with a fatal prognosis. Classical features include motor disturbances, dementia and psychiatric problems but are not restricted to this triad as patients often experience other abnormalities such as unintended weight loss, the exact cause of which is unknown.
We studied the body composition of 25 premanifest HD and compared it to 25 control subjects using a dual energy x-ray absorptiometer (DEXA) scan. Like the R6/2 transgenic mouse model, we identified significantly lower bone mineral density z-scores in premanifest individuals, that was not related to any difference in testosterone, cortisol, leptin or Vitamin D levels.
These results identify an early gene-related change that occurs in HD which not only could lead to a potential biomarker for the disease, but given it is also seen in other manifest neurodegenerative diseases, could also reveal a common disease related process.

Identifying sleep disturbances in Huntington’s disease using a simple disease-focused questionnaire

Sleep disturbances have been shown to affect patients with various neurological diseases, including Huntington’s disease (HD). We therefore aimed to develop a sleep questionnaire that could be used by clinicians to help identify sleep disturbances in patients with the disease.

Design
A detailed questionnaire was used that was modelled on recent sleep questionnaires used for Parkinson’s disease patients, and developed after consultation with sleep specialists. This questionnaire contained 45 questions that focused on different sleep-related issues such as duration, quality of sleep, abnormal nocturnal behaviour and quality of life.

Setting
Questionnaires were either completed in the home environment or in clinic.

Participants
66 patients, 38 carers and 60 non-carers were recruited.

Measurements & Results
Various sleep-related difficulties were identified in a significantly greater proportion of HD patients compared to control subjects, with both quality and quantity of sleep being affected.

Conclusions
Disturbed sleep in HD may contribute towards the deterioration of the patient’s ability to do activities of daily living and have a significantly deleterious effect on the quality of life of both patients and carers. This simple questionnaire should aid the clinician by providing subjective insight into the patient’s sleep patterns that could enable more effective, individual-specific treatment to be instigated and ultimately improve quality of life.

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.