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Repeat polymorphisms as genetic modifiers of brain function in healthy subjects and Huntington disease mutation carriers

Total Cost €


EC-Contrib. €






Project "BRAIN REPEATS" data sheet

The following table provides information about the project.


Organization address
city: London
postcode: WC1E 6BT

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website
 Total cost 97˙727 €
 EC max contribution 97˙727 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2015
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2016
 Duration (year-month-day) from 2016-10-01   to  2017-09-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITY COLLEGE LONDON UK (London) coordinator 97˙727.00


 Project objective

Neuropsychiatric disorders such as dementia and depression are among the leading causes of disability and exert a dramatic burden on Europe’s healthcare systems. In order to devise more effective therapies it is essential to elucidate their genetic basis. However, to date genetic association studies have only identified a small fraction of the genetic determinants, possibly due to neglect of some important genomic variations, especially DNA repeat expansions. Expanded DNA repeats above a certain threshold are associated with various neurological disorders, the most common of which are polyglutamine diseases caused by exonic triplet (cytosine-adenine-guanine (CAG)) repeat expansions leading to a range of cognitive and psychiatric abnormalities. Emerging findings indicate that even CAG repeat length variations in the normal range in polyglutamine disease-associated genes (PDAGs) can affect mental health and cognition. Nevertheless, virtually nothing is known about the biological mechanisms through which these genetic variations affect brain structure and function. Therefore, the key objective of this proposal is to evaluate the effects of CAG repeat polymorphisms in PDAGs on brain structure and function, both in healthy controls and carriers of the mutation for Huntington disease (HD), the most common polyglutamine disease. To this end I will: 1) Systematically assess the association between these genetic polymorphisms and mental health, cognition and brain morphometric and functional MRI imaging in a large cohort of well-characterized control subjects and HD mutation carriers, and 2) Perform pathway analysis using gene expression data already available from these participants in order to elucidate the underlying molecular pathways. This proposal is unique as it translates novel insights into the pathophysiology of polyglutamine diseases to those of more common, complex disorders, thereby accelerating development of effective therapies for all patient groups.


year authors and title journal last update
List of publications.
2017 Geerte Stuitje, Martine J. van Belzen, Sarah L. Gardiner, Willeke M. C. van Roon-Mom, Merel W. Boogaard, Sarah J. Tabrizi, Raymund A. C. Roos, N. A. Aziz
Age of onset in Huntington’s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes
published pages: e42-e42, ISSN: 0006-8950, DOI: 10.1093/brain/awx122
Brain 140/7 2019-06-13
2017 Jorien M. M. van der Burg, Sarah L. Gardiner, Albert C. Ludolph, G. Bernhard Landwehrmeyer, Raymund A. C. Roos, N. Ahmad Aziz
Body weight is a robust predictor of clinical progression in Huntington disease
published pages: 479-483, ISSN: 0364-5134, DOI: 10.1002/ana.25007
Annals of Neurology 82/3 2019-06-13
2017 S L Gardiner, M J van Belzen, M W Boogaard, W M C van Roon-Mom, M P Rozing, A M van Hemert, J H Smit, A T F Beekman, G van Grootheest, R A Schoevers, R C Oude Voshaar, H C Comijs, B W J H Penninx, R C van der Mast, R A C Roos, N A Aziz
Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression
published pages: e1143, ISSN: 2158-3188, DOI: 10.1038/tp.2017.116
Translational Psychiatry 7/6 2019-06-13
2017 Arlin Keo, N. Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke van Roon-Mom, Boudewijn Lelieveldt, Marcel Reinders, Ahmed Mahfouz
Co-expression patterns between ATN1 and ATXN2 coincide with brain regions affected in Huntington\'s disease
published pages: , ISSN: 1662-5099, DOI: 10.3389/fnmol.2017.00399
Front. Mol. Neurosci. 2019-06-13

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