| Prevalence | Approximately 5-10 per 100,000 people worldwide |
| Typical Onset | Typically 30-50 years, but can present at any age |
| Population | Higher prevalence in populations of European ancestry (5-10/100,000) compared to Asian populations (0.5-1/100,000) |
| Sex | Equal prevalence in males and females |
| Disease Duration | 15-20 years from onset to death |
| HTT (Huntingtin) | Located on chromosome 4p16.3; CAG repeat expansion causes HD[@the1993] |
| CAG Repeat Length | Strong inverse correlation between repeat length and age of onset[@gusella2023] |
| DNA Repair Genes | MSH3, FAN1, and other DNA repair pathway genes modify age of onset[@hong2023] |
| HTT haplotypes | Different haplotypes affect disease progression |
| Transcriptional dysregulation | mHTT interacts with transcription factors (REST, NCoR, SP1), disrupting gene expression |
| Protein aggregation | mHTT forms insoluble aggregates in neurons |
| Loss of normal function | Wild-type huntingtin is essential for neuronal health |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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