Table 1d.
Characteristics of childhood-onset autosomal recessive hereditary choreas.
| Disease; Gene | Region; Age | Mov Disord | Key Findings | Other Sx | NPsych | CI/Dem | I and L |
|---|---|---|---|---|---|---|---|
| Friedreich’s ataxia; Frataxin | 10–15 yrs. | Chorea is rare | Ataxia Foot deformities Areflexia |
Peripheral neuropathy Diabetes Cardiomyopathy Scoliosis |
No | No | NCS: Abnormal sensory nerve action potentials I: Atrophy of cervical spinal cord with minimal cerebellar atrophy |
| Ataxia telangiectasia; ATM | 1–4 yrs. | Choreoathetosis | Prominent ataxia Telangiectasias |
Peripheral neuropathy Oculomotor apraxia Predisposition to immunological disorders and cancer |
No | No | I: cerebellar atrophy L: Serum alpha-fetoprotein is elevated and IgA, IgE, IgG2 deficiency |
| Ataxia with oculomotor apraxia types 1 and 2; APTX and SETX | 2–10 yrs. (AOA1) 3–30 yrs. (AOA2) |
Chorea, dystonia | Oculomotor apraxia Ataxia |
Axonal sensorimotor neuropathy | No | Yes | I: Cerebellar atrophy L: Hypoalbuminemia and Hypercholesterolemia (AOA1), Elevated serum alpha-fetoprotein (AOA2) |
| Xeroderma pigmentosum; XP | 1–2 yrs. | Chorea in advanced stages | Cutaneous photosensitivity Freckle-like pigmentation on face Conjunctival telangiectasia Optic atrophy Dry skin Predisposition to skin cancer |
Ataxia Seizures Areflexia Peripheral neuropathy Sensorineural hearing loss Abnormalities in dentition |
No | Yes | – |
| Huntington disease-like 3; unknown | Saudi Arabian; 3–4 yrs. | Chorea, dystonia | – | Ataxia Gait instability Spasticity Seizures Mutism |
No | Yes | I: Frontal and caudate atrophy |
| Spastic ataxia type 2 (SPG58); KIF1C | 10–20 yrs. | Chorea Dystonia |
Spastic gait Ataxia |
Hyperreflexia and spasticity Developmental delay |
No | Yes | I: Demyelination and cerebellar atrophy |
| PDE10A mutation; PDE10A | 5–15 yrs. | Chorea | Diurnal fluctuations | – | No | No | I: Symmetrical T2-hyperintense striatal lesions |
| GPR88 mutation; GPR88 | Palestinian; 8–9 yrs. | Chorea | – | Developmental delay | No | Yes | – |
| Hereditary Epileptic-Dyskinetic Encephalopathies; FOXG1, GNAO1, GRIN1, FRRS1L, IRF2BPL | Neonatal to 8 yrs. | Chorea, dystonia, ballism, stereotypies | Early-onset, drug-resistant seizures Facial and oro-lingual dyskinesias |
Developmental delay Oculogyric crises, cortical blindness, spastic tetraparesis (GRIN1) |
No | Yes | I: corpus callosum hypoplasia, delayed myelination, simplified gyration (FOXG1) |
Mov Dis: Movement Disorders; Sx: Symptoms; NPsych: Neuropsychiatric features; CI/Dem: Cognitive impairment or dementia; I: Imaging; L: Laboratory.