| Inheritance | Autosomal dominant |
| Extremely rare | Only a few families reported worldwide |
| Age of onset | Variable, typically in adulthood (30-60 years) |
| Gender | Equal distribution between males and females |
| First described | 1996 by a German research group |
| Octapeptide repeat insertions | Variable number of repeats |
| Prion protein deposition | Patchy, synaptic-type deposits |
| Spongiform changes | Vacuolation of neuropil (less prominent than CJD) |
| Neuronal loss | Particularly in striatum and cortex |
| Astrocytosis | Reactive glial responses |
| Cerebellar involvement | Purkinje cell loss in some cases |
| Basal ganglia | Caudate nucleus and putamen (striatum) — primary site of pathology, explaining chorea |
| Databases | OMIMOrphanetClinicalTrialsPubMed |