Cognitive changes are an integral feature of Huntington’s disease that are present early in the course of the condition and become more severe with disease progression. Forgetfulness, difficulty paying attention and maintaining concentration and a general ‘slowing’ of cognition are common early symptoms of HD, all of which can have a big impact on work and everyday life.
If treatments for HD are to be successful, it is important that they address cognitive symptoms as well as the more commonly recognised motor symptoms. In this context, it is crucial to know which aspects of cognition are the most sensitive to HD and to develop accurate and reliable methods of measuring these changes.
The primary aims of the Cognitive Phenotype Working Group are as follows:
To develop a neuropsychological battery to be used in the EHDN REGISTRY Project.
To improve standardisation of neuropsychological test administration in order to increase data reliability.
To develop novel assessment tools and evaluate their sensitivity to the progression of HD for potential use as outcome measures in therapeutic trials.
To carry out collaborative neuropsychological studies aiming to extend the theoretical understanding of HD.
An instruction manual has been developed in order to improve the standardisation of neuropsychological test administration. With the help of our working group and other EHDN members, this manual is being translated into various European languages. An important next step is to collect normative data across the different European languages. A pilot study comparing Dutch, English and French has been carried out and a large scale study will soon begin.
We are also in the process of developing a training video to guide the administration and scoring of the REGISTRY neuropsychological assessment. Other study protocols under development include the evaluation of a visual memory test, a syntactic comprehension test and a tapping test.
Phenotype Working Group currently has approximately 25 active members
and an additional 40 associate members (July 2008). Membership is open
to scientists and clinicians with an interest in neuropsychological
aspects of Huntington’s disease. The group meets once or twice a year
(typically at the EHDN plenary meeting and on one other occasion) and
maintains regular e-mail communication between face-to-face meetings.
Members are encouraged to present their research at working group
meetings and to propose collaborative working group projects.
Dr Jennifer Thompson
Neuropsychologist, Scientific and Bioethics Advisory Committee, Co-Investigator, Cognitive Rater, Lead Facilitator Cognitive Phenotype Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust