disease 918 words KG: ent-dise-27d28f61 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Huntington's Disease Genetic Variants

Disease Info
Motor symptomsChorea (involuntary movements), dystonia, bradykinesia
Cognitive symptomsExecutive dysfunction, memory deficits, impaired judgment
Psychiatric symptomsDepression, anxiety, irritability, psychosis
Neuronal developmentEmbryonic neurogenesis
Synaptic functionVesicle trafficking, neurotransmitter release
Transcriptional regulationSupporting neuronal survival
Axonal transportOrganelle and protein trafficking
[Autophagy](/entities/autophagy)Cellular quality control
Normal< 27 CAG repeats
Intermediate27-35 repeats (not disease-causing but can expand in offspring)
Reduced penetrance36-39 repeats (may or may not cause disease)
Full penetrance≥ 40 repeats (will develop HD)
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (15)

Hippocampal CA3-CA1 synaptic rescue via DHHC2-mediated PSD95
Score: 0.69
Hippocampal CA3-CA1 circuit rescue via neurogenesis and syna
Score: 0.68
Selective APOE4 Degradation via Proteolysis Targeting Chimer
Score: 0.59
Competitive APOE4 Domain Stabilization Peptides
Score: 0.56
APOE4 Allosteric Rescue via Small Molecule Chaperones
Score: 0.54

Related Analyses (18)

Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived
TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived

Related Experiments (3)

Alpha-Synuclein Aggregation Triggers — Sporadic PD Initiatio
clinical · proposed · Score: 0.40
tACS Connectivity Trial in Early Alzheimer's
clinical · proposed · Score: 0.40
Microbiome-Gut Barrier Signatures in ALS — Experiment Design
clinical · proposed · Score: 0.40