Chorea-acanthocytosis: Genetic linkage to chromosome 9q21

Justin P. Rubio, Adrian Danek, Caroline Stone, Richard Chalmers, Nicholas Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian M. Fabrizi, Michela Manfredi, Jefferey Vance, Margaret Pericak-Vance, Robert Brown, Gabrielle Rudolf, Fabienne Picard, Elisa Alonso, Mitchell Brin, Andrea H. Németh, Martin Farrall, Anthony P. Monaco

Research output: Contribution to journalArticlepeer-review

80 Scopus citations


Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (Θ = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene.

Original languageEnglish (US)
Pages (from-to)899-908
Number of pages10
JournalAmerican journal of human genetics
Issue number4
StatePublished - Oct 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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