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Table 2 Comparative Features

From: Neuroacanthocytosis Syndromes

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