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Working Groups - Juvenile Huntington’s Disease -

Juvenile Huntington’s Disease Working Group

Background

Juvenile Huntington’s disease (JHD), defined as symptom onset before 20 years of age, has been recognised as being at one end of the phenotypic spectrum of HD. In many studies the proportion of cases meeting this definition has varied, but it is usually less than 10%. Given the rarity of JHD, wide collaboration of scientists, clinicians and families affected by JHD internationally is important. As might be expected, the pathology in JHD is more widespread. Therefore, we need the ability to assess treatments which alter the natural history on this subgroup of patients. The international collaboration facilitated by EHDN creates a platform for this work to take place.
Mouse models used in HD research frequently have high CAG repeat counts, as do those with JHD. It is therefore thought that these mouse models may be modeling JHD, and understanding more about JHD is an important area of study for HD research in general.

Description

The main aims of the JHD Working Group are as follows:
  1. To foster international collaboration on JHD.
  2. To carry out a more detailed study of the natural history of the condition and to develop more appropriate assessments for those with JHD, given their distinct phenotype and age.
  3. To carry out an international qualitative research project looking at the impact of JHD on the family, and to identify features of JHD that may influence the development of JHD-specific assessments.
  4. To carry out a survey of medications used for symptomatic treatment in JHD that can be used to develop better guidelines for the treatment of JHD.
  5. To develop better information on JHD.
Current projects

The JHD Working Group is currently working on the following projects:
  1. A trial of modified assessments for those with JHD, in particular the motor and functional assessments of the Unified Huntington's Disease Rating Scale (UHDRS).
  2. An international qualitative research project looking at the impact of JHD on the family, and to identify features of JHD that may influence the development of JHD-specific assessments.
  3. A survey of medications used for symptomatic treatment in JHD that can be used to develop better guidelines for the treatment of JHD (currently in the United Kingdom and USA only).
  4. The publication of a book on JHD, which is planned for printing in early 2009 by Oxford University Press.
Membership

The JHD Working Group has currently 27 active members (June 2008), including members from the United Kingdom, Italy, Poland, France, the Netherlands, Sweden, Germany, USA and Australia. The working group encourages participation from any scientist, clinician or family member interested in or with experience of JHD, both from Europe and worldwide. Many of the issues we discuss share elements with different working groups, so collaboration with other groups is very important for our work.
 

Contacts:

Lead Facilitator
Dr. Oliver Quarrell
Geneticist, Principal Investigator, Motor Rater, Lead Facilitator JHD
Sheffield Children's Hospital, Department of Clinical Genetics
Postal address: OPD II NORTHERN GENERAL HOSP
S5 7AU Sheffield
U.K.
phone: +44 1142717025
fax: +44 1142737467
e-mail: 
Coordinators
Nadia Peppa
Juvenile HD Working Group Coordinator
Postal address: 
U.K.
e-mail: 
Helen Santini
HDA Working Group JHD
Huntington´s Disease Association, Neurosupport Centre
Postal address: Norton Street
L3 8LR Liverpool
U.K.
phone: +44 1279507656
e-mail: 

Associated Language Area Coordinator (Lanco)

, UK

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