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 Carrè, Elisa Alonso, Michela Manfredi, Andrea H. Németh, Anthony P. Monaco

Research output: Contribution to journalArticlepeer-review

220 Scopus citations

Abstract

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 languageEnglish (US)
Pages (from-to)119-120
Number of pages2
JournalNature Genetics
Volume28
Issue number2
DOIs
StatePublished - 2001

ASJC Scopus subject areas

  • Genetics

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