The Cognitive Phenotype working group focusses on the following questions:

  1. How can we measure the whole spectrum of cognitive deficits in HD appropriately? Are existing tools sensitive enough, reliable and sufficiently specific?
  2. How do structural and functional brain changes translate into the cognitive decline observed in HD?
  3. How do cognitive impairments impact functional independence? Can we measure functional changes as a consequence of cognitive deterioration?
  4. How do cognitive impairments influence neuropsychiatric manifestations?
  5. Is there an operationalised and valid concept of mild cognitive impairment and dementia in HD?


The main activity of the Cognitive Phenotype working group is currently to develop a new HD-specific brief cognitive assessment scale and evaluate its psychometric properties as well as reliability and sensitivity. Several clinical sites across Europe will be involved in this project that will enrol a large cohort of early to middle stage HD patients and controls. The multilingual nature of the cohort involved will also serve as a first step for the proper validation of the instrument in multiple languages. Extended statistical examinations that provide accurate measures on the sensitivity, specificity, reliability, internal consistency, sensitivity to change and other psychometric properties of the new instrument will be instrumental in this project.

We previously developed the neuropsychological assessment protocol for the Registry and Enroll-HD observational studies with a specific manual for its proper administration in different languages.

The Cognitive Phenotype working group consists of a multidisciplinary team with members from around Europe and USA. Currently the WG is represented by neuropsychologists, neurologists, psychologists and psychiatrists. We strive for a multidisciplinary approach to study cognition and therefore collaborate with other WGs on the development of clinical assessment tools, psychometics and neuroimaging/neurophysiological studies.


Lead Facilitator:
Movement Disorders Unit. Department of Neurology.
Hospital de la Santa Creu i Sant Pau
Barcelona, Spain


Co-lead Facilitator:
Movement Disorders Unit. Department of Neurology.
Hospital de la Santa Creu i Sant Pau
Barcelona, Spain


Associated EHDN Language Area Coordinator:
Andrea Horta, EHDN Lanco,