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


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.

DOI: 10.1038/88821
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@article{Rampoldi2001ACS, title={A conserved sorting-associated protein is mutant in chorea-acanthocytosis}, author={Luca Rampoldi and Carol Dobson-Stone and Justin P. Rubio and Adrian Danek and Richard M. Chalmers and Nicholas W. Wood and Christine Verellen and Xavier Ferrer and Alessandro Malandrini and Gian Maria Fabrizi and Robert Brown and Jeffery M. Vance and Margaret A. Pericak-Vance and Gabrielle Rudolf and Sophie Carr{\'e} and Elisa Alonso and Michela Manfredi and Andrea H. Nemeth and Anthony P. Monaco}, journal={Nature Genetics}, year={2001}, volume={28}, pages={119-120} }