Progressive neuroacanthocytosis in brothers: a case report.

Choreoacanthocytosis, more broadly called neuroacanthocytosis, is a rare neurodegenerative disorder usually inherited as an autosomal recessive trait. It is one of the neuroacanthocytosis syndromes characterized by neurological problems and acanthocytosis. Symptoms typically become apparent between the ages of 25 and 45. The disorder may be characterized by chorea, dystonia, a buckling gait, tics including lip “smacking” and “hissing” vocalizations, personality changes, cognitive decline, seizures, parkinsonism, and/or atrophy of muscle tissue (amyotrophy) with an abnormally high lengthwise arch of the foot (pes cavus). Early changes may include personality alterations, most often depression. At some point throughout the disease, the peripheral blood smear usually reveals acanthocytes—spiculated red cells with a few finger-like projections of variable size (width and length) and surface distribution.