Table 1
Clinical Characteristics of Affected Siblings
| Sibling 1 | Sibling 2 | Sibling 3 | |
|---|---|---|---|
| Age at assessment | 44 | 42 | 36 |
| Gender | Male | Female | Female |
| Age at symptom onset | 36 | 38 | 28 |
| First symptoms | Psychiatric | Psychiatric | Epilepsy |
| Psychiatric symptoms | ✓ | ✓ | ✓ |
| Dysphagia | ✓ | ✓ | ✗ |
| Dysarthria | ✓ | ✓ | ✓ |
| Self-injurious biting | ✗ | ✓ | ✓ |
| Vocal tics | ✗ | ✓ | ✓ |
| Orofacial chorea/dystonia | ✓ | ✓ | ✗ |
| Truncal and limb chorea | ✓ | ✓ | ✗ |
| “Rubber man” gait | ✓ | ✗ | ✗ |
| Cognitive deficits | ✓ | ✓ | ✗ |
| Signs of peripheral neuropathy | ✓ | ✓ | ✗ |
| Epilepsy | ✓ | ✗ | ✓ |
| Peripheral blood acanthocytes | ✓ | ✓ | N/A |
| Creatine phosphokinase (U/L) (normal 40–180) | 193 | 375 | 433 |
| VPS13A gene mutation | Compound heterozygote | Compound heterozygote | Compound heterozygote |
| Huntington disease allele | Abnormal allele: 37 CAG | Abnormal allele: 37 CAG | Normal allele |