123 results

• Gene

  A segment of genetic material (or DNA) that determines inherited characteristics and contributes to the organism’s physiological functions.

  Reference:

  ScienceDirect Topics. Gene [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/neuroscience/gene

• Genetic loci/ locus

  The specific physical location of a gene or other DNA sequence on a chromosome.

  Reference:

  ScienceDirect Topics. Gene locus [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/immunology-and-microbiology/gene-locus

• Genome-wide association studies

  A research method that examines the entire genome (the complete set of DNA of a person) to detect genetic variants linked to a specific trait or disease.

  Reference:

  ScienceDirect Topics. Genome-wide association study [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/medicine-and-dentistry/genome-wide-association-study

• Glial fibrillary acidic protein (GFAP)

  A protein expressed almost exclusively in astrocytes, used as a biomarker of astrocyte injury and neuroinflammation.

  Reference:

  Chouliaras L, Thomas A, Malpetti M, et al. Differential levels of plasma biomarkers of neurodegeneration in Lewy body dementia, Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 2022;93(6):651-658. doi:10.1136/jnnp-2021-327788

• Healthcare resource utilization (HCRU)

  Refers to the quantifiable use of healthcare services and resources, including hospitalizations, outpatient visits, emergency department visits, medication prescriptions, use of medical devices, allied health services, and home care. HCRU is a key metric in health services research and health economics, used to assess disease burden, plan resource allocation, and evaluate the impact of interventions on healthcare systems.

  Reference:

  Stenson K, O'Callaghan L, Mellor J, Wright J, Gibson G, Earl L, Barlow S, Fournier CN. Healthcare resource utilization at different stages of amyotrophic lateral sclerosis: results from a real-world survey. J Neurol Sci. 2023 Sep 15;452:120764. doi:10.1016/j.jns.2023.120764 | York Health Economics Consortium. Resource use [Internet]. [cited 2025 Dec]. Available from: https://www.yhec.co.uk/glossary-term/resource-use/

• Hyperphosphorylated tau (p-tau)

  Tau protein with an excessive number of phosphate groups attached, causing it to detach from microtubules, misfold, and aggregate into toxic NFTs that disrupt neuronal function.

  Reference:

  Tapia-Rojas C, Cabezas-Opazo F, Deaton CA, Vergara EH, Johnson GVW, Quintanilla RA. It's all about tau. Prog Neurobiol. 2019;175:54-76. doi:10.1016/j.pneurobio.2018.12.005

• Hypokinesis

  Significant impairment in the ability to perform normal motor actions.

  Reference:

  ScienceDirect Topics. Hypokinesia [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/neuroscience/hypokinesia

• Hypometabolism (in this case, referred to the brain)

  A reduction in glucose uptake and energy activity in specific brain regions, seen as areas of low tracer signal on FDG-PET, usually reflecting neuronal dysfunction or loss.

  Reference:

  National Center for Biotechnology Information (NCBI). MedGen: Hypometabolism [Internet]. [cited 2025 Nov]. Available from: https://www.ncbi.nlm.nih.gov/medgen/868403

• Imaging-supported diagnosis

  A diagnosis reinforced by findings from imaging techniques (e.g., MRI, PET) that show disease-specific changes.

  Reference:

  Höglinger GU, Respondek G, Stamelou M, et al. Clinical diagnosis of progressive supranuclear palsy: the movement disorder society criteria. Mov Disord. 2017;32(6):853-864. doi:10.1002/mds.26987

• Immunotherapy

  A type of therapy based on stimulating or suppressing the immune system.

  Reference:

  Harvard Health. Medical dictionary of health terms: D through I [Internet]. [cited 2025 Nov]. Available from: https://www.health.harvard.edu/d-through-i

• Incidence

  The number of new cases of a disease occurring in a specific population over a specific period of time.

  Reference:

  ScienceDirect Topics. Incidence (epidemiology) [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/medicine-and-dentistry/incidence-epidemiology

• Intracellular

  Located or occurring within the interior of a cell.

  Reference:

  ScienceDirect Topics. Intracellular fluid [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/immunology-and-microbiology/intracellular-fluid

• Isoforms

  Variants of a protein that can slightly differ in structure and function. E.g. tau can appear as 3R and 4R.

  Reference:

  ScienceDirect Topics. Gene isoform [Internet]. [cited 2025 Nov]. Available from: https://www.sciencedirect.com/topics/neuroscience/gene-isoform | Zhang Y, Wu KM, Yang L, Dong Q, Yu JT. Tauopathies: new perspectives and challenges. Mol Neurodegener. 2022;17(1):28. doi:10.1186/s13024-022-00533-z

• Macro square wave jerks

  Involuntary, large-amplitude, horizontal eye movements that temporarily move the eyes away from and then back to a fixation point.

  Reference:

  Höglinger GU, Respondek G, Stamelou M, et al. Clinical diagnosis of progressive supranuclear palsy: the movement disorder society criteria. Mov Disord. 2017;32(6):853-864. doi:10.1002/mds.26987

• Mechanism of action (MoA)

  The specific physiological process through which a drug produces its therapeutic effect in the body.

  Reference:

  Cirinciani M, Da Pozzo E, Trincavelli ML, et al. Drug mechanism: a bioinformatic update. Biochem Pharmacol. 2024;228:116078. doi:10.1016/j.bcp.2024.116078