- Commonest cause is Bassen-Kornzweig disease (Abetalipoproteinemia)
- Autosomal recessive Other rare forms exist with different characteristics.
- Childhood onset of mild chorea, tics, ataxia, parkinsonism and dystonia
- Seizures, Subcortical dementia, peripheral axonal neuropathy
- A minority have acanthocytes (red cells with spiny projections) seen on blood film which may be transient
- Elevated CK, Low vitamin E level, high cholesterol level, and abnormal lipoprotein electrophoresis.
- CT/MRI - atrophy of caudate and putamen
- High dose Vitamin E helps
- Supportive and symptomatic treatment for movement disorders.