• 3α,7-Dihydroxy-14(13→12)abeo-5β,12α(H),13β(H)-cholan-24-oic Acids Display Neuroprotective Properties in Common Forms of Parkinson’s Disease 

      Luxenburger, Andreas; Clemmens, Hannah; Hastings, Christopher; Harris, Lawrence D.; Ure, Elizabeth M.; Cameron, Scott A.; Aasly, Jan; Bandmann, Oliver; Weymouth-Wilson, Alex; Furneaux, Richard H.; Mortiboys, Heather (Peer reviewed; Journal article, 2023)
      Parkinson’s Disease is the most common neurodegenerative movement disorder globally, with prevalence increasing. There is an urgent need for new therapeutics which are disease-modifying rather than symptomatic. Mitochondrial ...
    • APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway 

      Sando, Sigrid Botne; Melquist, Stacey; Cannon, Ashley; Hutton, Michael; Sletvold, Olav; Saltvedt, Ingvild; White, Linda; Lydersen, Stian; Aasly, Jan (Journal article; Peer reviewed, 2008)
      Background: The objective of this study was to analyze factors influencing the risk and timing of Alzheimer's disease (AD) in central Norway. The APOE ε4 allele is the only consistently identified risk factor for late ...
    • Aspects of early Parkinson's disease Odor Identification, Imaging Characteristics and Cancer in LRRK2 mutation carriers 

      Warø, Bjørg Johanne (Doctoral theses at NTNU, 2020:244, Doctoral thesis, 2020)
      Summary Parkinson’s disease (PD) is defined as a movement disorder, but most patients also suffer from a wide range of non-motor symptoms, including reduced sense of smell, depression, and sleep disorders. Some of these ...
    • Bruk av avansert behandling ved Parkinsons sykdom i Norge / Use of advanced therapies for Parkinson’s disease in Norway 

      Ezat, Beriwan; Pihlstrøm, Lasse; Aasly, Jan; Tysnes, Ole-Bjørn; Egge, Arild; Dietrichs, Espen (Journal article; Peer reviewed, 2017)
      BACKGROUND Many patients with Parkinson’s disease with severe motor fluctuations benefit from advanced therapies – either deep brain stimulation or continuous infusion therapy with levodopa-carbidopa intestinal gel or ...
    • Cerebrospinal Fluid Concentration of Key Autophagy Protein Lamp2 Changes Little During Normal Aging 

      Loeffler, David A.; Klaver, Andrea C.; Coffey, Mary P.; Aasly, Jan (Peer reviewed; Journal article, 2018)
      Autophagy removes both functional and damaged intracellular macromolecules from cells via lysosomal degradation. Three autophagic mechanisms, namely macroautophagy, chaperone-mediated autophagy (CMA), and microautophagy, ...
    • Changes to intermediary metabolites in sporadic and LRRK2 Parkinson's disease demonstrated by proton magnetic resonance spectroscopy 

      Aasly, Jan; Sæther, Oddbjørn; Johansen, Krisztina Kunszt; Bathen, Tone Frost; Giskeødegård, Guro F.; White, Linda (Peer reviewed; Journal article, 2015)
      Background. Parkinson’s disease (PD) remains a clinical diagnosis and biomarkers are needed to detect the disease as early as possible. Genetically determined PD provides an opportunity for studying metabolic differences ...
    • Clinical and Imaging Markers of Prodromal Parkinson's Disease 

      Hustad, Eldbjørg; Aasly, Jan (Peer reviewed; Journal article, 2020)
      The diagnosis of Parkinson's disease (PD) relies on the clinical effects of dopamine deficiency, including bradykinesia, rigidity and tremor, usually manifesting asymmetrically. Misdiagnosis is common, due to overlap of ...
    • CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson's disease: a study in LRRK2 mutation carriers 

      Majbour, Nour K; Aasly, Jan; Hustad, Eldbjørg; Thomas, Mercy A; Vaikath, Nishant N; Elkum, Naser; van de Berg, Wilma; Tokuda, Takahiko; Mollenhauer, Brit; Berendse, Henk W; El-Agnaf, Omar (Peer reviewed; Journal article, 2020)
      Background: Asymptomatic carriers of leucine-rich repeat kinase 2 (LRRK2) gene mutations constitute an ideal population for discovering prodromal biomarkers of Parkinson's disease (PD). In this study, we aim to identify ...
    • Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2) 

      Towns, Clodagh; Richer, Madeleine; Jasaityte, Simona; Stafford, Eleanor J.; Joubert, Julie; Antar, Tarek; Martinez-Carrasco, Alejandro; Makarious, Mary B.; Casey, Bradford; Vitale, Dan; Levine, Kristin; Leonard, Hampton; Pantazis, Caroline B.; Screven, Laurel A.; Hernandez, Dena G.; Wegel, Claire E.; Solle, Justin; Nalls, Mike A.; Blauwendraat, Cornelis; Singleton, Andrew B.; Tan, Manuela; Iwaki, Hirotaka; Morris, Huw R.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan; Pihlstrøm, Lasse; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazlı; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Noyce, Alastair; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Houlden, Henry; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip (Peer reviewed; Journal article, 2023)
      The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding ...
    • Elevated levels of cerebrospinal fluid α-synuclein oligomers in healthy asymptomatic LRRK2 mutation carriers 

      Aasly, Jan; Johansen, Krisztina; Brønstad, Gunnar; Warø, Bjørg Johanne; Majbour, NK; Varghese, S; Alzahmi, F; Paleologou, KE; Amer, DAM; Al-Hayani, A; El-Agnaf, OMA (Journal article; Peer reviewed, 2014)
      Mutations in the leucine-rich repeat kinase 2 gene are the most common cause of autosomal dominant Parkinson’s disease (PD). To assess the cerebrospinal fluid (CSF) levels of α-synuclein oligomers in symptomatic and ...
    • Elevated LRRK2 autophosphorylation in brain-derived and peripheral exosomes in LRRK2 mutation carriers 

      Wang, S; Liu, Z; Ye, T*; Mabrouk, O S; Maltbie, T; Aasly, Jan; West, A B (Journal article; Peer reviewed, 2017)
      Missense mutations in the leucine-rich repeat kinase 2 (LRRK2) gene can cause late-onset Parkinson disease (PD). LRRK2 mutations increase LRRK2 kinase activities that may increase levels of LRRK2 autophosphorylation at ...
    • Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort 

      Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.; Correia Guedes, Leonor; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria; Menéndez-González, Manuel; Jesús Maestre, Silvia; Gómez-Garre, Pilar; Mir, Pablo; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che; Crosiers, David; Wszolek, Zbigniew K.; Ross, Owen A.; Jankovic, Joseph; Nishioka, Kenya; Funayama, Manabu; Clarimon, Jordi; Williams-Gray, Caroline H.; Camacho, Marta; Cornejo-Olivas, Mario; Torres-Ramirez, Luis; Wu, Yih-Ru; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet; Berg, Daniela; Kuhlenbäumer, Gregor; Kühn, Andrea A.; Borngräber, Friederike; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano; Chase, Bruce; Markopoulou, Katerina; Satake, Wataru; Toda, Tatsushi; Rossi, Malco; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana A.; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genç, Gençer; de Carvalho Aguiar, Patricia; Barkhuizen, Melinda; Pimentel, Marcia M.G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias; Appel-Cresswell, Silke; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J.W.; Krüger, Rejko; Sammler, Esther M.; Tumas, Vitor; Zhang, Bao-rong; Garraux, Gaetan; Chung, Sun Ju; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King; Damásio, Joana; Klivényi, Péter; Kostic, Vladimir S.; Arkadir, David; Martikainen, Mika; Borges, Vanderci; Hertz, Jens Michael; Brighina, Laura; Spitz, Mariana; Suchowersky, Oksana; Riess, Olaf; Das, Parimal; Mollenhauer, Brit; Gatto, Emilia M.; Petersen, Maria Skaalum; Hattori, Nobutaka; Wu, Ruey-Meei; Illarioshkin, Sergey N.; Valente, Enza Maria; Aasly, Jan; Aasly, Anna; Alcalay, Roy N.; Thaler, Avner; Farrer, Matthew J.; Brockmann, Kathrin; Corvol, Jean-Christophe; Klein, Christine (Peer reviewed; Journal article, 2023)
      Background As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of ...
    • Exploring cancer in LRRK2 mutation carriers and idiopathic Parkinson's disease 

      Warø, Bjørg Johanne; Aasly, Jan (Journal article; Peer reviewed, 2018)
      Objectives To compare the risk of non‐skin cancer in LRRK2 mutation carriers and individuals with idiopathic Parkinson's disease (iPD), explore the age at which LRRK2 mutation carriers have cancer compared to iPD subjects, ...
    • Factitious disorders in Germany–a detailed insight 

      Prangenberg, Julian; Aasly, Jan; Doberentz, Elke; Madea, Burkhard; Schrader, Harald (Peer reviewed; Journal article, 2021)
      Factitious disorders (FDs) are well known to a majority of physicians; however, the corresponding ICD-10 diagnosis F68.1 remains severely under assigned and often misdiagnosed. Based on a previously conducted nationwide ...
    • GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters 

      Gabbert, Carolin; Schaake, Susen; Lüth, Theresa; Much, Christoph; Klein, Christine; Aasly, Jan; Farrer, Matthew J.; Trinh, Joanne (Journal article; Peer reviewed, 2023)
    • Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility 

      Sevlever, Daniel; Zou, Fang Geng; Ma, Li; Carrasquillo, Sebastian; Crump, Michael G; Culley, Oliver J; Hunter, Talisha A; Bisceglio, Gina; Younkin, Linda; Allen, Mariet; Carrasquillo, Minerva; Sando, Sigrid Botne; Aasly, Jan; Dickson, Dennis W; Graff-Radford, Neill; Petersen, Ronald C.; Morgan, Kevin; Belbin, Olivia (Journal article; Peer reviewed, 2015)
      Background Alzheimer’s disease is a neurodegenerative disorder in which extracellular deposition of β-amyloid (Aβ) oligomers causes synaptic injury resulting in early memory loss, altered homeostasis, accumulation of ...
    • Genetics and Molecular Pathways in Parkinson's disease and Parkinsonism 

      Gustavsson, Karl Emil (Doctoral theses at NTNU;2018:36, Doctoral thesis, 2018)
      In this thesis I used a wide range of genetic methodologies and biological strategies to unravel the genetic bases of parkinsonian disorders and their clinical relevance. First, in Paper I, we present the discovery of a ...
    • Incidence of the diagnosis of factitious disorders - Nationwide comparison study between Germany and Norway 

      Geile, Julian; Aasly, Jan; Madea, Burkhard; Schrader, Harald (Peer reviewed; Journal article, 2020)
      Factitious disorders (FD) like Munchausen syndrome are well known to most physicians, yet the corresponding ICD-10 diagnosis F68.1 remains severely under-assigned and often misdiagnosed. To approach this problem, we conducted ...
    • Increased Mortality in Young-Onset Parkinson's Disease 

      Hustad, Eldbjørg; Myklebust, Tor Åge; Gulati, Sasha; Aasly, Jan (Peer reviewed; Journal article, 2021)
      Objective Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes ...
    • Increased Oxidative Stress Markers in Cerebrospinal Fluid from Healthy Subjects with Parkinson's Disease-Associated LRRK2 Gene Mutations 

      Loeffler, David A.; Klaver, Andrea C.; Coffey, Mary P.; Aasly, Jan; LeWitt, Peter A. (Peer reviewed; Journal article, 2017)
      Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most frequent cause of inherited Parkinson’s disease (PD). The most common PD-associated LRRK2 mutation, G2019S, induces increased production of reactive ...