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Gabery S1, Georgiou-Karistianis N2, Lundh SH1, Cheong RY1, Churchyard A3, Chua P4, Stout JC2, Egan GF5, Kirik D6 and Petersén Å1.1Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.2School of Psychological Sciences, Monash University, Clayton, Victoria, 3180, Australia.3School of Psychological Sciences, Monash University, Clayton,

https://www.huntington-research.lu.se/volumetric-analysis-hypothalamus-huntington-disease-using-3t-mri-image-hd-study - 2025-12-15

Breimer P, Petersén Å and Widner H. Lakartidningen. 2021;118:20126. (2021) Abstract Huntington disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. It is inherited in an autosomal dominant fashion with full penetrance. Around 15% of cases arise from spontaneous expansion of the CAG repeat. The clinical presentation includes involuntary m

https://www.huntington-research.lu.se/recurrent-psychotic-symtoms-over-several-years-were-caused-huntingtonsdisease - 2025-12-15

Wiesner D, Sinniger J, Henriques A, Dieterlé S, Müller H, Rasche V, Ferger B, Dirrig-Grosch S, Soylu-Kucharz R, Petersén A, Walther P, Linkus B, Kassubek J, Wong PC, Ludolph AC and Dupuis L.Human Molecular Genetics 24(8): 2228-2240 (2015)AbstractMutations in components of the molecular motor dynein/dynactin lead to neurodegenerative diseases of the motor system or atypical parkinsonism. These muta

https://www.huntington-research.lu.se/low-dietary-protein-content-alleviates-motor-symptoms-mice-mutant-dynactindynein-mediated - 2025-12-15

Cheong RY, Baldo B, Sajjad MU, Kirik D and Petersén Å. Neuropathology and Applied Neurobiology. 47(4): 564-578 (2021) doi: 10.1111/nan.12682. Abstract Aims: Huntington disease (HD) is a fatal neurodegenerative disorder with no disease-modifying treatments approved so far. Ongoing clinical trials are attempting to reduce huntingtin (HTT) expression in the central nervous system (CNS) using differen

https://www.huntington-research.lu.se/effects-mutant-huntingtin-inactivation-huntington-disease-related-behaviours-bachd-mouse-model - 2025-12-15

Petersén is head of the Huntington Disease Center and the clinical multi-professional HD team at the HD Clinic, located at the Neurology department at Skåne University Hospital (SUS) in Lund. The HD Center was formed at LU and Region Skåne with the aim to improve healthcare for families with HD and to bring research closer to the clinic. Please see www.huntingtoncentrum.se for more information. Th

https://www.huntington-research.lu.se/patients - 2025-12-15

Gabery S,  Ahmed RA, Caga J,  Kiernan MC, Halliday GM and Petersén Å. Neuropathology and Applied Neurobiology. 47(7): 979-989 (2021) doi.org/10.1111/nan.12709 Abstract Aims To determine the underlying cellular changes and clinical correlates associated with pathology of the hypothalamus in amyotrophic lateral sclerosis (ALS), as hypothalamic atrophy occurs in the preclinical phase of the disease.

https://www.huntington-research.lu.se/loss-metabolism-and-sleep-regulating-neuronal-populations-expressing-orexin-and-oxytocin - 2025-12-15

Baldo B, Cheong RY, Petersén ÅPLoS One 9(10) (2014)AbstractPsychiatric and metabolic features appear several years before motor disturbances in the neurodegenerative Huntington’s disease (HD), caused by an expanded CAG repeat in the huntingtin (HTT) gene. Although the mechanisms leading to these aspects are unknown, dysfunction in the hypothalamus, a brain region controlling emotion and metabolism

https://www.huntington-research.lu.se/effects-deletion-mutant-huntingtin-steroidogenic-factor-1-neurons-psychiatric-and-metabolic - 2025-12-15

Soylu-Kucharz R, Khoshnan A and Petersén Å. bioRxiv 2021.04.08.438894; First published April 9, 2021. https://doi.org/10.1101/2021.04.08.438894 Abstract Background Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. Metabolic changes are associated with HD progression, and underlying mechanisms are not fully known. As the IKKβ/NF

https://www.huntington-research.lu.se/ikkb-signaling-mediates-metabolic-changes-hypothalamus-huntingtons-disease-mouse-model - 2025-12-15

Henningsen JB,  Soylu-Kucharz R, Björkqvist M and Petersén Å. Heliyon. 2021 Aug 14;7(8):e07808. doi: 10.1016/j.heliyon.2021.e07808. eCollection 2021 Aug. Abstract Huntington disease (HD) is a fatal neurodegenerative movement disorder caused by an expanded CAG repeat in the huntingtin gene (HTT). The mutant huntingtin protein is ubiquitously expressed, but only certain brain regions are affected. T

https://www.huntington-research.lu.se/effects-excitotoxicity-hypothalamus-transgenic-mouse-models-huntington-disease - 2025-12-15

Learn more from these short films where Åsa Petersén talks about cognitive symptoms and behavioural changes and psychiatric in Huntington's disease. Published by courtesy of Riksförbundet Huntingtons Sjukdom. All films are in Swedish. To view the Swedish subtitles, please click the button "CC" in the control bar (third from right) and choose "Svenska". Åsa Petersén about cognitive symptoms.   Åsa

https://www.huntington-research.lu.se/cognitive-symptoms-and-behavioural-changes - 2025-12-15

Gabery S, Kwa JE, Cheong RY, Baldo B, Ferrari Bardile C, Tan B, McLean C, Georgiou-Karistianis N, Poudel GR, Halliday G, Pouladi MA and Petersén Å.  Acta Neuropathologica. 142(5): 791-806 (2021) doi: 10.1007/s00401-021-02362-8. Abstract Huntington disease (HD) is a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin (HTT) gene. The typical motor symptoms have been a

https://www.huntington-research.lu.se/early-white-matter-pathology-fornix-limbic-system-huntington-disease - 2025-12-15

Hyrskyluoto A, Bruelle C, Lundh SH, Do HT, Kivinen J, Rappou E, Reijonen S, Waltimo T, Petersén Å, Lindholm D and Korhonen L.Human Molecular Genetics 23: 5928-5939 (2014)AbstractHuntington's disease (HD) is an autosomal inherited neurological disease caused by a CAG repeat expansion in the first exon of huntingtin gene encoding for the huntingtin protein (Htt). In HD there is an accumulation of in

https://www.huntington-research.lu.se/ubiquitin-specific-protease-14-reduces-cellular-aggregates-and-protects-against-mutant-huntingtin - 2025-12-15

Dickson E, Soylu-Kucharz R , Petersén Å and Björkqvist M. Mol Metab. 2022 Mar;57:101439. doi: 10.1016/j.molmet.2022.101439. Epub 2022 Jan 7. Abstract Objective In Huntington's disease (HD), the disease-causing huntingtin (HTT) protein is ubiquitously expressed and causes both central and peripheral pathology. In clinical HD, a higher body mass index has been associated with slower disease progress

https://www.huntington-research.lu.se/hypothalamic-expression-huntingtin-causes-distinct-metabolic-changes-huntingtons-disease-mice - 2025-12-15

Soylu-Kucharz R, Khoshnan A and Petersén Å. iScience 2022 Jan 19;25(2):103771. doi: 10.1016/j.isci.2022.103771. eCollection 2022 Feb 18. Abstract Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. Metabolic changes are associated with HD progression, but underlying mechanisms are not fully known. As the IKKβ/NF-κB pathway is an

https://www.huntington-research.lu.se/ikkb-signaling-mediates-metabolic-changes-hypothalamus-huntingtons-disease-mouse-model-0 - 2025-12-15

Dickson E, Sai Dwijesha A, Andersson N, Lundh S, Björkqvist M, Petersén Å and Soylu-Kucharz R. Frontiers in Neuroscience. 2022 Nov 3;16:1027269. doi: 10.3389/fnins.2022.1027269. PMID: 36408416; PMCID: PMC9671106. Abstract Structural changes and neuropathology in the hypothalamus have been suggested to contribute to the non-motor manifestations of Huntington’s disease (HD), a neurodegenerative diso

https://www.huntington-research.lu.se/microarray-profiling-hypothalamic-gene-expression-changes-huntingtons-disease-mouse-models - 2025-12-15

Petersén Å1 and Kirik D2.1Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.2Brain Repair and Imaging in Neural Systems (BRAINS) Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.Journal of Clinical Investigation 17:1-3 (2014)AbstractA common form of the hyperkinetic movement disor

https://www.huntington-research.lu.se/twisting-mice-move-dystonia-field-forward - 2025-12-15

Hellem MNN, Cheong RY, Tonetto S, Vinther-Jensen T, Hendel RK, Larsen IU, Nielsen TT, Hjermind LE, Vogel A, Budtz-Jørgensen E, Petersén Å and Nielsen JE. Parkinsonism and Related Disorders. 99: 23-29 (2022).  Abstract Objective: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social c

https://www.huntington-research.lu.se/decreased-csf-oxytocin-relates-measures-social-cognitive-impairment-huntingtons-disease-patients - 2025-12-15

Bergh S, Cheong R Y, Petersén Å and Gabery S. Front. Mol. Neurosci., 14 September 2022; Sec. Molecular Signalling and Pathways; doi.org/10.3389/fnmol.2022.984317   Abstract Neurodegenerative disorders (NDDs) such as Huntington’s disease (HD) and the spectrum of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by progressive loss of selectively vulnerable popu

https://www.huntington-research.lu.se/oxytocin-huntingtons-disease-and-spectrum-amyotrophic-lateral-sclerosis-frontotemporal-dementia - 2025-12-15

Furby H, Moore S, Nordstroem A-L, Houghton R, Lambrelli D, Graham S, Svenningsson P and Petersén Å. Journal of Neurology. 270(2): 864-876 (2023) doi:10.1007/s00415-022-11418-y. Abstract Background: Huntington's disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families. Objective:

https://www.huntington-research.lu.se/comorbidities-and-clinical-outcomes-adult-and-juvenile-onset-huntingtons-disease-study-linked - 2025-12-15

In June 2022, Sofia Bergh started her PhD studies in TNU supervised by Prof. Åsa Petersén. The overall aim of the PhD project is to investigate the cellular and molecular mechanisms of limbic system pathology of Huntington’s disease. Her first original research article is in press titled “Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington’s disease” in Neuropathol

https://www.huntington-research.lu.se/team/sofia-bergh-phd-student - 2025-12-15