Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.

Journal Article (Journal Article;Review)

Chorea-acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families with CHA and review the clinical presentations in previous reports. In addition, we report magnetic resonance imaging scans in these patients. The pattern of inheritance in these families is most likely autosomal recessive. Obligate heterozygotes do not have acanthocytes on wet preparation under phase microscope. Two of 3 propositi were initially diagnosed as having Huntington chorea. Chorea-acanthocytosis is an important differential in the diagnosis of Huntington chorea and should be considered in families without a family history. The paucity of families with CHA reported to date may represent lack of recognition.

Full Text

Duke Authors

Cited Authors

  • Vance, JM; Pericak-Vance, MA; Bowman, MH; Payne, CS; Fredane, L; Siddique, T; Roses, AD; Massey, EW

Published Date

  • October 1, 1987

Published In

Volume / Issue

  • 28 / 2

Start / End Page

  • 403 - 410

PubMed ID

  • 3322006

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320280219


  • eng

Conference Location

  • United States