• 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 ...
    • 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 ...
    • 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 ...
    • 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 ...
    • 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, ...
    • 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 ...
    • LRRTM3 Interacts with APP and BACE1 and Has Variants Associating with Late-Onset Alzheimer's Disease (LOAD) 

      Lincoln, Sarah; Allen, Mariet; Cox, Claire L.; Walker, Louise P.; Malphrus, Kimberly; Qiu, Yishu; Nguyen, Thuy; Rowley, Christopher; Kouri, Naomi; Crook, Julia; Pankratz, V. Shane; Younkin, Samuel; Younkin, Linda; Carrasquillo, Minerva; Zou, Fang Geng; Abdul-Hay, Samer O.; Springer, Wolfdieter; Sando, Sigrid Botne; Aasly, Jan; Barcikowska, Maria; Wszolek, Zbigniew K.; Lewis, Jada M.; Dickson, Dennis; Graff-Radford, Neil R.; Petersen, Ronald C.; Eckman, Elizabeth; Younkin, Steven G.; Ertekin-Taner, Nilüfer (Journal article; Peer reviewed, 2013)
      Leucine rich repeat transmembrane protein 3 (LRRTM3) is member of a synaptic protein family. LRRTM3 is a nested gene within α-T catenin (CTNNA3) and resides at the linkage peak for late-onset Alzheimer’s disease (LOAD) ...
    • Metabolomic profiling in LRRK2-related Parkinson's disease 

      Johansen, Krisztina; Wang, Lei; Aasly, Jan; White, Linda; Matson, Wayne R.; Henchcliffe, Claire; Flint Beal, M.; Bogdanov, Mikhail (Journal article; Peer reviewed, 2009)
      Background: Mutations in LRRK2 gene represent the most common known genetic cause of Parkinson's disease (PD). Methodology/Principal Findings: We used metabolomic profiling to identify biomarkers that are associated ...
    • 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 ...