TABLE 1.
Clinical and genetic features.
| Patient | Age at onset | Localization at onset | Other localizations | Peculiar features | VPS16 variant (heterozygous) |
|---|---|---|---|---|---|
| A.II.1 | 6 | Writer's cramp | Upper limbs, Oromandibular region | Choreoathetosis | c.2181G > A, p.Trp727* |
| B.II.6 | 52 | Blepharospasm | Pharynx, neck | Inspiratory dyspnea with stridor | c.480delT, p.Asp161Thrfs*50 |
| C.II.1 | 14 | Dysphonia | Generalized dystonia | Myoclonus and freezing | c.1939C > T, p.Arg647* |
| D.II.1 | 4 | Oral region | Upper/lower limbs | Dyskinesias | c.1389C > G, p.Tyr463* |
| E | 12 | Oromandibular | Upper/lower limbs | Myoclonus | c.2170_2171delAA, p.Lys724Glufs*44 |
| F | 12 | Oromandibular | Upper limbs, neck | Jerky dystonic tremor | c.2140C > T, p.Gln714* |
Note: Black filling denotes affected individuals.