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Sensory mechanisms of balance impairment in cerebellar disease


Lisa Bunn
, Jon Marsden, Paola Giunti†, Brian Day†‡.

†Institute of Neurology, University College London

‡Principal investigator/primary PhD supervisor


A series of studies were undertaken as part of Dr Bunnís PhD in neuroscience at the Institute of Neurology, UCL. This was in collaboration with the London Specialist Ataxia Centre run by Dr Paola Giunti and funded by Ataxia UK. These have since informed the development of a novel therapy which was funded by Ataxia UK and piloted last year for feasibility and assessment of reliability of outcome measures. It is anticipated that this will lead to future development of a randomised controlled trial of the therapy.

Lisa Bunn    Sensory mechanisms

1. Quantifying posture and balance impairment in personís with cerebellar ataxia

Lisa Bunn, Jon Marsden, Paola Giunti†, Brian Day†‡.

This study quantified posture and balance in personís with genetically inherited cerebellar ataxia (SCA types 1,2,3 and 6). A primary group of 17 personís with pure cerebellar disease (SCA6) were studied and small subgroups of other genetic varieties were compared against this group and a matched group of healthy controls. Quantitative laboratory techniques were used to collect parametric measures of body sway and posture, including the use of 3D motion and ground reaction force analysis (using Codamotion and Kistler technologies).

2. Vestibular mechanisms of balance impairment in personís with pure cerebellar ataxia

Lisa Bunn, Jon Marsden, Paola Giunti†, Brian Day†‡.

This study explored balance in 29 personís with genetically inherited cerebellar ataxia (SCA types 1,2,3 and 6). Standing balance was perturbed via the vestibular system using custom made technologies and measures of body sway, including the use of 3D motion and ground reaction force analysis (using Codamotion and Kistler technologies) were collected as means of measuring the resultant whole body response.

3. Vestibular, proprioceptive and visual contributions to balance in personís with pure cerebellar ataxia

Lisa Bunn, Jon Marsden, Paola Giunti†, Daniel Voyce, Brian Day†‡.

This study further explored independent sensory systems contribution to balance in 16 personís with genetically inherited cerebellar ataxia (SCA types 1,2,3 and 6). Initial custom made equipment was developed with Mr Daniel Voyce (research engineer) to enable delivery of isolated single sensory stimuli resulting in balance perturbations. Standing balance was perturbed using these novel technologies and measures of body sway, including the use of 3D motion and ground reaction force analysis (using Codamotion and Kistler technologies) were collected as means of measuring the resultant whole body response.

4. Longitudinal measures of balance impairment, function and quality of life in those with pure cerebellar disease (SCA6)

Over the duration of three years, repeated assessment of postural sway and clinical measures (such as the Berg functional balance scale, functional independence measure and EuroQoL) were collected and compared with measures of disease severity (using the Scale for Assessment and Rating of Ataxia, SARA). Twelve subjects with pure ataxia (SCA6) participated over this time from an original population of 17. Dropout was primarily due to relocation of home address (i.e. out of the area) and worsening of ataxia symptoms limiting mobility into the research centre in central London.

During time spent researching balance impairment in personís with ataxia for her PhD, Dr Bunn also was involved in collecting questionnaire and rating scale outcome measures for the European multi-centred natural history study. The London contribution was run by Dr Paola Giunti and involved examining longitudinal assessment of disease severity in personís with ataxia SCA types 1,2,3 and 6 and monitoring falls retrospectively and prospectively (part of the EuroSCA project).

Prizes

Dr Lisa Bunn won the 2012 Royal Society of Medicineís Gordon Holmes Prize for Clinical Neuroscience.  Read more.

Funding

Ataxia UK charity

Dissemination

Fonteyn EM, Schmitz-HŁbsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, Bunn L, Charles P, DŁrr A, Filla A, Giunti P, Globas C, Klockgether T, Melegh B, Pandolfo M, De Rosa A, SchŲls L, Timmann D, Munneke M, Kremer BP, van de Warrenburg BP (2010) Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study. Cerebellum. Vol 9(2):232-9.

Academic presentations and citations in conference proceedings

2011 The World Confederation of Physical Therapy Congress, Amsterdam

  • Balance impairment in cerebellar disease: Can it be explained by disrupted sensory processing?

2009 International society for posture & gait research (ISPGR), Italy

  • The influence of posture on the pattern of whole-body instability in freely-standing subjects with SCA6
  • Balance control in spino-cerebellar ataxia type 6: Vestibular processing unraveled

2009 Movement Disorders Society 13th International Congress Paris

  • The pattern of instability and its dependence on posture in spino-cerebellar ataxia type 6 (SCA6)
  • Vestibular processing for balance control in spino-cerebellar ataxia type 6 (SCA6)

2008 5th International Posture Symposium, Bratislava

  • Vestibular processing for balance control in cerebellar disease

2008 National College of Occupational Therapists Conference, Newcastle

  • Vestibular processing for balance control in cerebellar disease

Invited presentations

2012 National Association of Chartered Physiotherapists Interested in Neurology (ACPIN) Conference, United Kingdom

  • What is the cause of balance impairment in pure cerebellar disease?

2011 Ataxia Study Day, Wessex ACPIN, Southampton General Hospital.

  • Physiotherapy management of ataxia.

2011 Ataxia Masterclass, Genetic Alliance UK and Ataxia UK collaboration, University of Sheffield.

  • Physiotherapy management of ataxia.

2011 South West ACPIN, Study Day, Bristol

  • Future directions for the management of cerebellar disease.

2010 Young Neuroscientists Meeting, Bristol

  • Sensory mechanisms of balance control in cerebellar disease

2010 Queen Square Institute of Clinical Neuroscience Open Day, London

  • Balance impairment in cerebellar disease: Can it be explained by disrupted sensory control mechanisms?

2009 ACPIN Neuro-rehabilitation research update study morning, London

  • Managing balance impairment in ataxia

2008 Queen Square Institute of Clinical Neuroscience Open Day, London

  • The control of balance in spino-cerebellar ataxia - A perturbing concept!

2007 NHNN Research and Development Forum, London

  • A planned investigation of balance in spino-cerebellar ataxia