Chorea-Acanthocytosis with the Ehime-Deletion Mutation

Abstract

Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disease showing Huntington disease-like neuropsychiatric symptoms and peripheral blood red cell acanthocytosis. Recently, we have identified the gene, CHAC, encoding a newly discovered protein, chorein, in which a deletion mutation was found in three Japanese ChAc families. Although four patients possessed the same mutation homozygously, their clinical characteristics varied, which means that multifactorial effects on the pathogenesis are present. Even some of the heterozygous carriers in the families showed a slight degree of acanthocytosis and psychiatric features including emotional lability or cognitive disturbance. We found heterozygous carriers of the deletion-mutation allele in the group of patients with mood disorder. The CHAC gene product, chorein, may function as an important protein in the brain not only for motor but also for mental function.