Table 1a.
Characteristics of adult-onset autosomal dominant hereditary choreas.
| Disease; Gene | Region; Age | Mov Disord | Key Findings | Other Sx | NPsych | CI/Dem | I and L |
|---|---|---|---|---|---|---|---|
| Huntington’s disease; Huntingtin (HTT) |
20–40 yrs.* | Chorea Parkinsonism, dystonia, myoclonus if young onset |
– | Hung-up knee jerk reflex | Yes | Yes | I: Striatal volume loss |
| C9orf72 expansions; C9orf72 |
Caucasian; 40–50 yrs. | HD phenocopy | – | – | Yes | Yes | I: Generalized cerebral atrophy |
| Spinocerebellar ataxia 17; TATA box-binding protein (TBP) |
Caucasian and Asian; 20–40 yrs. | HD phenocopy Dystonia, tremors, parkinsonism |
Ataxia predominates | Pyramidal signs Seizures |
Yes | Yes | I: caudate or cerebellar atrophy |
| Huntington disease-like 2; Junctophilin-3 (JPH3) |
African ancestry; 40–50 yrs. | HD phenocopy | – | – | Yes | Yes | I: Similar to HD |
| Dentatorubropallidoluysian atrophy; Atrophin-1 (ATN1) |
Japanese; 30 yrs. | HD phenocopy Myoclonus |
– | Ataxia Seizures |
Yes | Yes | I: White matter lesions and cerebellar/brainstem atrophy |
| Neuroferritinopathy; Light chain of ferritin (FTL) |
Cumbrian region of northern England; 40 yrs. | HD phenocopy Dystonia, parkinsonism |
Oromandibular chorea predominate | Spasticity Ataxia |
Yes | Yes | I: Iron accumulation or cystic changes in basal ganglia or cortical regions with pallidal necrosis and edema in later stages L: Low serum ferritin levels |
| Familial prion disease (Huntington disease-like 1); Prion protein (PRNP) |
20–40 yrs. | HD phenocopy Myoclonus | Rapidly progressive | Seizures Ataxia |
Yes | Yes | – |
| Spinocerebellar ataxias types 1, 2, 3, 7, 12, 48; ATXN 1, 2, 3, 7, 12, 48 |
European, Cuban, Indian (SCA 2); 30 yrs.* | HD phenocopies Dystonia, myoclonus, parkinsonism |
Ataxia | Pyramidal signs Oculomotor abnormalities Slow saccades (SCA2) Facio-lingualfasciculations (SCA2) |
No | Yes | I: Pontine and cerebellar atrophy; T2 hyperintensities in dentate nuclei extending to middle cerebellar peduncle (SCA48) |
| Primary familial brain calcification; SLC20A2 | 30–40 yrs. | Akinetic syndrome, tremor, chorea, dystonia | – | – | Yes | Yes | I: Caudate, brainstem, thalami, cerebellum, white matter, cortical calcifications |
Mov Dis: Movement Disorders; Sx: Symptoms; NPsych: Neuropsychiatric features; CI/Dem: Cognitive impairment or dementia; I: Imaging; L: Laboratory; HD: Huntington’s disease.
* Inversely related to the size of the repeat expansion