disease 918 words KG: ent-dise-27d28f61
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

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