Abstract
Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology1,2 (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease3,4,5,6,7,8. We identified a gene in the CHAC critical region9 and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.
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Acknowledgements
We thank R. Hardie for collecting samples of families CHAC1 and CHAC9, E. Levy for fluorescence in situ hybridization analysis, S. Humphray for support in physical mapping and D. Higgs for providing K562 cell line RNA. This work was supported by the Wellcome Trust. L.R. is supported by a postdoctoral fellowship of the Italian Telethon and by a fellowship of the University of Padua. J.P.R. is a postdoctoral fellow of the CRC for the Discovery of Genes for Common Human Diseases, which is established and supported by the Australian Government's Co-operative Research Centre's Scheme. N.W.W. is supported by MR C program grant G9706148. J.V. and M.P.-V. are supported by grant 2P01 NS26630. A.P.M. is a Wellcome Trust Principal Research Fellow.
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Rampoldi, L., Dobson-Stone, C., Rubio, J. et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28, 119–120 (2001). https://doi.org/10.1038/88821
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DOI: https://doi.org/10.1038/88821
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