Disorder | ChAc | MLS | HDL2 | PKAN |
---|---|---|---|---|
Gene | VPS13A | XK | JPH3 | PANK2 |
Protein | Chorein | XK protein | Junctophilin-3 | Panthothenate kinase 2 |
Inheritance | Autosomal recessive | X-linked | Autosomal dominant | Autosomal recessive |
Acanthocytes | +++ | +++ | +/- | +/- |
Serum CK (U/L) | 300 - 3000 | 300 - 3000 | Normal | Normal |
Neuroimaging | Striatal atrophy | Striatal atrophy | Striatal and cortical atrophy | "Eye of the tiger" sign |
Usual onset | 20 - 30 | 25 - 60 | 20 - 40 | Childhood |
Chorea | +++ | +++ | +++ | +++ |
Other movement disorders | Feeding and gait dystonia, tongue and lip biting, parkinsonism | Vocalizations | Dystonia, parkinsonism | Dystonia, parkinsonism, spasticity |
Seizures | Generalized, partial-complex | Generalized | None | None |
Neuromuscular manifestations | Areflexia, weakness, atrophy | Areflexia, weakness, atrophy | None | None |
Cardiac manifestations | None | Atrial fibrillation, malignant arrhythmias, dilative cardiomyopathy | None | None |