Organisational unit: Research group
Research areas and keywords
UKÄ subject classification
- Huntington disease, depression, hypothalamus, psychiatry, neurodegenerative
The research group studies the underlying pathogenic mechanisms of the neurodegenerative and neuropsychiatric Huntington disease (HD) with the ultimate aim to develop novel effective therapies. HD is a devastating disorder always caused by an expanded CAG triplet repeat mutation in the huntingtin gene. Importantly, individuals with the mutant HD gene suffer from psychiatric symptoms and metabolic dysfunction many years before onset of typical motor symptoms. Our hypothesis is that the non-motor features are due to hypothalamic pathology. We have previously shown that hypothalamic changes occur early in clinical HD and we have established a causal relationship between hypothalamic huntingtin and the development of metabolic and psychiatric disturbances in mice. Ongoing work will identify key molecular pathways and the critical neuronal circuitries affected early in the HD hypothalamus in order to develop disease modifying treatments.
Recent research outputs
Microstructural white matter alterations and hippocampal volumes are associated with cognitive deficits in craniopharyngiomaS. Fjalldal, C. Follin, D. Svärd, L. Rylander, Gabery, S., Petersén, D. van Westen, P. C. Sundgren, I. M. Björkman-Burtscher, J. Lätt, Ekman, B., A. Johanson & E. M. Erfurth 2018 Jun 1 In : European journal of endocrinology. 178, 6, p. 577-587 11 p.
Research output: Contribution to journal › Article
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Hypothalamic alterations in neurodegenerative diseases and their relation to abnormal energy metabolismVercruysse, P., Vieau, D., Blum, D., Åsa Petersén & Dupuis, L. 2018 Jan 19 In : Frontiers in Molecular Neuroscience. 11, 2
Research output: Contribution to journal › Review article