Research project

Huntington's Disease

Huntington's disease (HD) is an autosomal dominantly inherited, neurodegenerative disorder for which a cure has not yet been found. The hallmark of HD is progressive volume loss in the striatum starting several years before the onset of first symptoms and eventually leading to widespread brain atrophy. Clinically HD’s phenotype is extremely heterogeneous and encompasses a triad of motor symptoms, cognitive decline and psychiatric disturbances. Using multimodal magnetic resonance imaging (MRI) techniques, our main goal is to characterize early disease-specific changes in brain structure and function in HD mutation carriers compared to healthy control subjects. For instance, longitudinal assessments of regional brain volume loss and investigations into functional brain networks (via connectivity analyses) are evaluated in the context of clinical deterioration. These findings may help us to predict more precisely the individual morbidity risk and disease progression for this genetic disorder. Moreover, using new cutting-edge imaging techniques (sodium MRI, phosphor magnetic resonance spectroscopy) we intend to investigate early metabolic alterations, particularly in the preclinical stage of HD. The identification of such metabolic imaging “biomarkers” gives us the unique opportunity to better understand early pathobiological changes in HD and may provide a window for early therapeutic intervention before irreversible brain damage has taken place.

Further reading:
JARA BRAIN - Case Study on Huntington's Disease
HDBuzz - High-power brain scans reveal sodium changes in Huntington's Disease

Neuronal correlates and clinical predictors for dysphagia in Huntington’s Disease

Eating and swallowing problems occur in nearly 100% of patients with Huntington’s Disease (HD). Irregular, rapid movements of the limbs, body, orofacial and pharyngolaryngeal structures are one explanation for dysphagia in this patient group. As in other neurodegenerative diseases, complication of dysphagia like aspiration, dehydration and malnutrition can increase morbidity and mortality. For example, aspiration pneumonia due to dysphagia has been reported as the leading cause of death in HD. Despite its high prevalence, there is still a lack of evidence regarding the management of HD-associated dysphagia. It is therefore important to define clinical risk factors more precisely to guide future diagnostic and therapeutic approaches.

In order to evaluate the prevalence and characteristics of the swallowing disorder, reliable and feasible outcome measures will be used, including instrumental assessment like FEES (fiberoptic evaluation of swallowing) and VFSS (videofluoroscopic swallow study). Patients will also undergo an (f)MRI scan in order to derive neuronal correlates from patterns of atrophy and resting state network patterns.

The aim of this observational study is thus to systematically describe features of the swallowing disorder and its correlation to cognitive and motor function as well as neuronal patterns in different stages of Huntington's Disease. We expect this research project to yield important insights into risk factors for developing dysphagia in HD, which in itself might eventually lead to early diagnosis and management or even protective strategies. This project is a cooperation with AG Werner (link here).

Aggression and Cognition in Huntington's Disease

Huntington’s disease (HD) is a rare autosomal-dominantly inherited disease. Approximately 10.000 individuals in Germany are affected. While the cause – a pathologically increased number of CAG repeats within the Huntingtin gene – has been identified, curative treatments are still a matter of research. First symptoms typically appear around the age of 30 to 50. However, there are also cases of juvenile onset.
Besides characteristic involuntary movements and cognitive decline (e.g. affecting attention, memory, or reasoning), some patients also experience psychiatric symptoms that may result in irritability and aggression. Disease onset, severity, and progression of symptoms are highly heterogeneous among patients. Thus, gene-carriers who do not show any motor signs may already struggle with aspects of cognition and psyche.

The International Research Training Group ( is an alliance of researchers from the University Hospital RWTH Aachen, the Jülich Research Center and the University of Pennsylvania (UPENN), funded by the German Research Foundation (DFG). Within the IRTG-2150, the relations between the above mentioned HD symptoms will be further investigated and linked to neuroimaging data (structural and functional magnetic resonance tomography). The main goals are to enhance our knowledge of possible interactions between the various symptoms and imaging markers and to identify predictors and influencing factors, that may ultimately help to improve medical care for people with HD and their caregivers.

More information about the HD study can be found here:

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