Table 1b.
Characteristics of adult-onset autosomal recessive hereditary choreas.
| Disease; Gene | Region; Age | Mov Disord | Key Findings | Other Sx | NPsych | Ci/Dem | I and L |
|---|---|---|---|---|---|---|---|
| Chorea-acanthocytosis; VPS13A | 20–40 yrs. | Generalized chorea, dystonia, tics, parkinsonism | Self-injurious orofacial dyskinesia Rubber-person-like gait |
Sp & Sw and problems Feeding dystonia Hypersalivation Head drops Myopathy or neuropathy Seizures |
Yes | Yes | I: Caudate atrophy L: Acanthocytes on blood smear, CPK and LFT elevation |
| Aceruloplasminemia; CP | 40–50 yrs. | Chorea Parkinsonism |
Retinal degeneration | Ataxia | Yes | Yes | I: Symmetrical iron deposition in the basal ganglia, thalamus, red nuclei, and dentate nuclei L: Anemia, DM |
| Wilson’s disease; ATP7B | 6–50 yrs. | Dystonic/choreic syndrome Parkinsonian syndrome |
Kayser-Fleischer rings | Ataxic syndrome | Yes | Yes | I: “Face of the giant panda” in midbrain L: Low serum ceruloplasmin levels, Elevated 24-hours copper excretion, Hemolytic anemia, Elevated LFTs |
Mov Dis: Movement Disorders; Sx: Symptoms; NPsych: Neuropsychiatric features; CI/Dem: Cognitive impairment or dementia; I: Imaging; L: Laboratory; Sp: Speech; Sw: Swallowing.