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

J. M. Vance, M. A. Pericak-Vance, M. H. Bowman, C. S. Payne, L. Fredane, T. Siddique, A. D. Roses, E. W. Massey

Research output: Contribution to journalReview article

29 Scopus citations

Abstract

Chorea-acanthocytosis (CHA) is a rare inherited neurological 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.

Original languageEnglish (US)
Pages (from-to)403-410
Number of pages8
JournalAmerican journal of medical genetics
Volume28
Issue number2
DOIs
StatePublished - Jan 1 1987
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Chorea-acanthocytosis: A report of three new families and implications for genetic counselling'. Together they form a unique fingerprint.

  • Cite this