Browsing St. Olavs hospital by Author "Aasly, Jan"

Now showing items 1-17 of 17

    • 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, ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • Inflammatory diseases among Norwegian LRRK2 mutation carriers. A 15-years follow-up of a cohort 

      Aasly, Jan (Peer reviewed; Journal article, 2021)
      The first families with LRRK2 related Parkinson’s disease (PD) were presented around 15 years ago and numerous papers have described the characteristics of the LRRK2 phenotype. The prevalence of autosomal dominant PD varies ...

    • Long-Term Outcomes of Genetic Parkinson's Disease 

      Aasly, Jan (Journal article, 2020)
      Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects 1-2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any known environmental ...

    • Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study 

      Markopoulou, Katerina; Aasly, Jan; Ju Chung, Sun; Dardiotis, Efthimios; Wirdefeldt, Karin; Premkumar, Ashvini; Schoneburg, Bernadette; Kartha, Ninith; Wilk, Gary; Wei, Jun Rong; Simon, Kelly Claire; Tideman, Samuel; Epshteyn, Alexander; Hadsell, Bryce; Garduno, Lisette; Pham, Anna; Frigerio, Roberta; Maraganore, Demetrius M. (Peer reviewed; Journal article, 2020)
      Background: Different factors influence severity, progression, and outcomes in Parkinson's disease (PD). Lack of standardized clinical assessment limits comparison of outcomes and availability of well-characterized cohorts ...

    • Mitochondrial Mechanisms of LRRK2 G2019S Penetrance 

      Delcambre, Sylvie; Ghelfi, Jenny; Ouzren, Nazzima; Grandmougin, Lea; Delbrouck, Catherine; Seibler, Philip; Wasner, Kobi; Aasly, Jan; Klein, Christine; Trinh, Joanne; Pereira, Sandro L; Grünewald, Anne (Peer reviewed; Journal article, 2020)
      Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. ...

    • Multifactorial assessment of Parkinson’s disease course and outcomes using trajectory modeling in a multiethnic, multisite cohort – extension of the LONG-PD study 

      Chase, Bruce A.; Krueger, Rejko; Pavelka, Lukas; Chung, Sun Ju; Aasly, Jan; Dardiotis, Efthimios; Premkumar, Ashvini P.; Schoneburg, Bernadette; Kartha, Ninith; Aunaetitrakul, Navamon; Frigerio, Roberta; Maraganore, Demetrius; Markopoulou, Katerina (Peer reviewed; Journal article, 2023)
      Background: The severity, progression, and outcomes of motor and non-motor symptoms in Parkinson’s disease (PD) are quite variable. Following PD cohorts holds promise for identifying predictors of disease severity and ...

    • Progressive multifocal leukoencephalopathy in an immunocompetent patient? 

      Johansen, Krisztina; Torp, Sverre Helge; Rydland, Jana; Aasly, Jan (Peer reviewed; Journal article, 2013)
      Background: Progressive multifocal leukoencephalopathy (PML) is a rapidly progressive, potentially fatal, demyelinating disease affecting immunosuppressed patients. PML is rarely reported in cases with no underlying disease ...

    • The incidence of diagnosis of Munchausen syndrome, other factitious disorders, and malingering 

      Schrader, Harald; Bøhmer, Thomas; Aasly, Jan (Journal article; Peer reviewed, 2019)
      Background. Systematic studies on factitious disorders and malingering in large populations are rare. To address this issue, we performed a nationwide epidemiological study in Norway on the incidence of these diagnoses in ...

    • What have we learned from cerebrospinal fluid studies about biomarkers for detecting LRRK2 Parkinson's disease patients and healthy subjects with Parkinson's-associated LRRK2 mutations? 

      Loeffler, David A.; Aasly, Jan; LeWitt, Peter A.; Coffey, Mary P. (Peer reviewed; Journal article, 2019)
      Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common known cause of autosomal dominant Parkinson’s disease (PD) and sporadic PD (sPD). The clinical presentation of LRRK2 PD is similar to sPD, and ...