Early Clinical Heterogeneity in Choreoacanthocytosis

Abstract
Choreoacanthocytosis (CHAC) is an uncommon neurodegenerative disorder often posing a serious diagnostic challenge. It is characterized by a variable combination of involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy, which may take years to evolve into a classic multisystem involvement.1 Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.2 Initial presentation with choreoathetosis, orofacial dyskinesia, buccolingual self-mutilation, tics, and obsessive-compulsive symptoms is suggestive of CHAC. However, the early clinical course is occasionally dominated by dystonia,2 parkinsonism,3 seizures,2 lower motor neuron signs,4 depression, or psychosis.2 The inheritance is usually autosomal recessive,1 although apparent sporadic2 and autosomal dominant instances are also known.5 When suspected, the diagnosis is supported by the presence of peripheral blood acanthocytosis, but this is not specific1 and may appear only late.6