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Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome

Dalene Skarping K, Arning L, Petersén Å, Nguyen HP and Gebre-Medhin S.Sci Rep. 2024;14(1):4300. Published 2024 Feb 21. doi:10.1038/s41598-024-54277-5AbstractDNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT). Here we have studied constitutional

https://www.huntington-research.lu.se/attenuated-huntingtin-gene-cag-nucleotide-repeat-size-individuals-lynch-syndrome - 2026-06-09

Ethical aspects of undergoing a predictive genetic testing for Huntington’s disease

Lilja Andersson P, Juth N, Petersén Å, Graff C and Edberg AE.Lund University, Sweden.Nursing Ethics 20: 189-199 (2013)AbstractThe aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington’s disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to und

https://www.huntington-research.lu.se/ethical-aspects-undergoing-predictive-genetic-testing-huntingtons-disease - 2026-06-09

Jennifer Oraha, PhD student

In 2024, Jennifer moved from Sydney, Australia to Lund, Sweden to start her PhD studies at the TNU, supervised by Pof. Åsa Petersén. In utilizing novel AAV-vectors and crossbreeding of animal models, Jennifer’s project aims to elucidate the specific hypothalamic circuitries important for the control of metabolism and emotion, with relevance to Huntington’s Disease, Amyotrophic Lateral Sclerosis an

https://www.huntington-research.lu.se/team/jennifer-oraha-phd-student - 2026-06-09

Expression of Mutant Huntingtin in Leptin Receptor-Expressing Neurons Does Not Control the Metabolic and Psychiatric Phenotype of the BACHD Mouse

Lundh SH, Soylu R and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.PLoS ONE 7(12): e51168 (2012).AbstractMetabolic and psychiatric disturbances occur early on in the clinical manifestation of Huntington’s disease (HD), a neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin (HTT) gene. Hypot

https://www.huntington-research.lu.se/expression-mutant-huntingtin-leptin-receptor-expressing-neurons-does-not-control-metabolic-and - 2026-06-09

For Better or for Worse: Lifeworld, System and Family Caregiving for a Chronic Genetic Disease

Hagen N, Lundin S, O'Dell T and Petersén Å.Culture Unbound 4: 537-557 (2012)AbstractModernity has meant a cultural and social differentiation within the western socie- ty, which, according to Jürgen Habermas’ theory on communication, can be seen as a division between different forms of actions that takes place in different realms of the society. By combining Habermas’ notions of lifeworld and sys

https://www.huntington-research.lu.se/better-or-worse-lifeworld-system-and-family-caregiving-chronic-genetic-disease - 2026-06-09

TDP-43 overexpression in the hypothalamus drives neuropathology, dysregulates metabolism and impairs behavior in mice

Bergh S, Casadei N, Gabery S, Simonsson O,  Duarte JMN, Kirik D, Nguyen HP and Petersén Å.Acta Neuropathologica Communications. 2025;13(1):119. Published 2025 May 27. doi:10.1186/s40478-025-02018-8AbstractTAR DNA-binding protein 43 (TDP-43) pathology is linked to the neurodegenerative disorders amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Huntington disease (HD). Dysregul

https://www.huntington-research.lu.se/tdp-43-overexpression-hypothalamus-drives-neuropathology-dysregulates-metabolism-and-impairs - 2026-06-09

The role of oligodendroglial dysfunction in Huntington's disease

Li X, Li S, Li X-J, Nguyen HP, Petersen Å and Pouladi MA.Journal of Huntington’s Disease. 2025;14(3):270-278. doi: 10.1177/18796397251358017. AbstractHuntington's disease (HD) is a fatal neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms. Research efforts to understand and treat the disease have historically focused on neuronal pathology, but growing

https://www.huntington-research.lu.se/role-oligodendroglial-dysfunction-huntingtons-disease - 2026-06-09

Characterization of a rat model of Huntington's disease based on targeted expression of mutant huntingtin in the forebrain using adeno-associated viral vectors

Gabery S, Sajjad MU, Hult S, Soylu R, Kirik D and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.Brain Repair and Imaging in Neural Systems (B.R.A.I.N.S.) Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.European Journal of Neuroscience 36(6):2789-800 (2012)AbstractHuntington's diseas

https://www.huntington-research.lu.se/characterization-rat-model-huntingtons-disease-based-targeted-expression-mutant-huntingtin-forebrain - 2026-06-09

Paper on TDP-43 key roll in hypothalamus

A new paper from TNU has been published, shedding light on the key role of TDP-43 in the hypothalamus in models of neurodegenerative disorders, including amyotrophic lateral sclerosis, frontotemporal dementia, and Huntington's disease. The paper was published with international collaborators in Acta Neuropathologica Communications on May 27, 2025Full text article on BMC:s webpage (opens in a new w

https://www.huntington-research.lu.se/paper-tdp-43-key-roll-hypothalamus - 2026-06-09

Differential effects of overexpression of mutant huntingtin and TDP-43 in agouti-related protein neurons in the arcuate nucleus of the hypothalamus in mice

Oraha J, Wagner R, Bergh S, Lee NJ, Kirik D and Petersén Å.Acta  Neuropathologica Communications. 2025 Dec 7. doi: 10.1186/s40478-025-02201-x. Online ahead of print.PMID: 41354852.AbstractThe spectrum of frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS) and Huntington disease (HD) are fatal neurodegenerative disorders with no major disease-modifying therapies. Recent work has shown t

https://www.huntington-research.lu.se/differential-effects-overexpression-mutant-huntingtin-and-tdp-43-agouti-related-protein-neurons - 2026-06-09

Hypothalamic and limbic system changes in Huntington's disease

Petersen Å and Gabery S.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.Journal of Huntington's disease 1: 13-24 (2012)AbstractHuntington’s disease (HD) is a neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Today, the clinical diagnosis of the disease requires unequivocal signs of typical moto

https://www.huntington-research.lu.se/hypothalamic-and-limbic-system-changes-huntingtons-disease - 2026-06-09

β-Blocker effects in huntington's disease: A caution on clinical interpretation

Aziz NA, Claassen D, Petersén Å and Weydt P.European Huntington's Disease Network and the Huntington Study Group. Published online December 15, 2025. doi:10.1177/18796397251401745AbstractA recent retrospective analysis of Enroll HD data suggesting β-blockers slow Huntington's disease progression has triggered patient demand but requires caution. The findings rely solely on small observational subs

https://www.huntington-research.lu.se/b-blocker-effects-huntingtons-disease-caution-clinical-interpretation - 2026-06-09

Analyses of the Effects of Wild-Type TDP-43 Overexpression in Oxytocin Neurons in Mice

Bergh S, Simonsson O and Petersén Å.Neuropathology and Applied Neurobiology 52(1):e70059 (2026)AbstractSelective TDP-43 overexpression in oxytocin neurons in the paraventricular nucleus of the hypothalamus causes a decrease in oxytocin-immunopositive cells compared to uninjected mice. AAV-mediated TDP-43 overexpression in oxytocin neurons does not appear to be a major driver of behavioural and met

https://www.huntington-research.lu.se/analyses-effects-wild-type-tdp-43-overexpression-oxytocin-neurons-mice - 2026-06-09

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Gabery S, Bergh S, Huridou C, Cheong RY, Baldo B, Scheunemann PG, Schoebel M-L, Holmquist Mengelbier L, Englund E, McLean C, Saft C, Kirik D, Björkqvist M, Halliday G, Petrasch-Parwez E, Nguyen HP, Weber JJ and Petersén Å.Brain Pathology. 2026;e70088. Published 24 February 2026. doi.org/10.1111/bpa.70088.AbstractThe pathogenic mechanisms leading to neurodegeneration in Huntington disease (HD) are

https://www.huntington-research.lu.se/dnarna-autophagy-protein-sidt2-novel-neuropathological-hallmark-huntington-disease - 2026-06-09

Progranulin bridges energy homeostasis and fronto-temporal dementia

Dupuis L1, 2, 3, Petersen A4, Weydt P31 Inserm U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, 67085Strasbourg, France2 Université de Strasbourg, Faculté de Médecine, UMRS692, 67085Strasbourg, France3 Department of Neurology, Ulm University, 89081 Ulm, Germany4 Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, 22184Lu

https://www.huntington-research.lu.se/progranulin-bridges-energy-homeostasis-and-fronto-temporal-dementia - 2026-06-09

Mutant huntingtin causes metabolic imbalance by disruption of hypothalamic neurocircuits

Hult S*, Soylu R*, Björklund T, Belgardt B F, Mauer J, Brüning J C, Kirik D and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund 22184, Sweden.Cell Metabolism 13: 428-439 (2011) *equal contributionAbstractIn Huntington's disease (HD), the mutant huntingtin protein is ubiquitously expressed. The disease was considered to be li

https://www.huntington-research.lu.se/mutant-huntingtin-causes-metabolic-imbalance-disruption-hypothalamic-neurocircuits - 2026-06-09

Eating and hypothalamus changes in behavioral-variant frontotemporal dementia

Piguet O, Petersén A, Yin Ka Lam B, Gabery S, Murphy K, Hodges JR and Halliday GM.Neuroscience Research Australia, Sydney, Australia.Annals of Neurology 69: 312-319 (2011)AbstractOBJECTIVE: Behavioral-variant frontotemporal dementia (bvFTD) is a progressive neurodegenerative brain disorder, clinically characterized by changes in cognition, personality, and behavior. Marked disturbances in eating b

https://www.huntington-research.lu.se/eating-and-hypothalamus-changes-behavioral-variant-frontotemporal-dementia - 2026-06-09

Publications

2026Gabery S, Bergh S, Huridou C, Cheong RY, Baldo B, Scheunemann PG, Schoebel M-L, Holmquist Mengelbier L, Englund E, McLean C, Saft C, Kirik D, Björkqvist M, Halliday G, Petrasch-Parwez E, Nguyen HP, Weber JJ and Petersén Å.The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease.Brain Pathology. 2026;e70088. Published 24 February 2026. doi.org/10.1111/bpa.

https://www.huntington-research.lu.se/publications - 2026-06-09

Increased numbers of orexin/hypocretin neurons in a genetic rat depression model

Mikrouli E, Wörtwein G, Soylu R, Mathé AA and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund 22184, Sweden.Neuropeptides 45(6): 401-406 (2011)AbstractThe Flinders Sensitive Line (FSL) rat is a genetic animal model of depression that displays characteristics similar to those of depressed patients including lower body weight,

https://www.huntington-research.lu.se/increased-numbers-orexinhypocretin-neurons-genetic-rat-depression-model - 2026-06-09