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huntingtons-disease
Huntington Disease
Huntington disease is caused by HTT CAG repeat expansion (≥36 copies); autosomal dominant; choreoathetosis, cognitive decline, and psychiatric disturbance onset in the 4th-5th decade; disease-modifying HTT-lowering therapies (ASOs, siRNA) are in Phase 3 clinical trials.
Entry Metadata
| Field | Value |
|---|---|
| ID | huntingtons-disease |
| Name | Huntington Disease |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983;306(5940):234-238. · PubMed 6316146
- The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72(6):971-983. · PubMed 8458085