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Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.

Original publication

DOI

10.1038/88821

Type

Journal article

Journal

Nat Genet

Publication Date

06/2001

Volume

28

Pages

119 - 120

Keywords

Alternative Splicing, Animals, Caenorhabditis elegans, Cell Line, Chorea, Chromosomes, Human, Pair 6, Erythrocytes, Exons, Fungal Proteins, Gene Expression Regulation, Haplotypes, Humans, Mutation, Pedigree, Protein Transport, Proteins, Saccharomyces cerevisiae Proteins, Sequence Homology, Amino Acid, Transcription, Genetic, Vesicular Transport Proteins