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Brief Communication

Nature Genetics 28, 119–120 (1 June 2001) | doi:10.1038/88821

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi , Carol Dobson-Stone , Justin P. Rubio , Adrian Danek , Richard M. Chalmers , Nicholas W. Wood , Christine Verellen , Xavier Ferrer , Alessandro Malandrini , Gian M. Fabrizi , Robert Brown , Jeffery Vance , Margaret Pericak-Vance , Gabrielle Rudolf , Sophie Carr|[egrave]| , Elisa Alonso , Michela Manfredi , Andrea H. N|[eacute]|meth & Anthony P. Monaco

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.