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

Publication ,  Journal Article
Vance, JM; Pericak-Vance, MA; Bowman, MH; Payne, CS; Fredane, L; Siddique, T; Roses, AD; Massey, EW
Published in: Am J Med Genet
October 1987

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.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

October 1987

Volume

28

Issue

2

Start / End Page

403 / 410

Location

United States

Related Subject Headings

  • Pedigree
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genetic Counseling
  • Female
  • Erythrocytes, Abnormal
  • Diagnosis, Differential
  • Deglutition Disorders
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Vance, J. M., Pericak-Vance, M. A., Bowman, M. H., Payne, C. S., Fredane, L., Siddique, T., … Massey, E. W. (1987). Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet, 28(2), 403–410. https://doi.org/10.1002/ajmg.1320280219
Vance, J. M., M. A. Pericak-Vance, M. H. Bowman, C. S. Payne, L. Fredane, T. Siddique, A. D. Roses, and E. W. Massey. “Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.Am J Med Genet 28, no. 2 (October 1987): 403–10. https://doi.org/10.1002/ajmg.1320280219.
Vance JM, Pericak-Vance MA, Bowman MH, Payne CS, Fredane L, Siddique T, et al. Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet. 1987 Oct;28(2):403–10.
Vance, J. M., et al. “Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.Am J Med Genet, vol. 28, no. 2, Oct. 1987, pp. 403–10. Pubmed, doi:10.1002/ajmg.1320280219.
Vance JM, Pericak-Vance MA, Bowman MH, Payne CS, Fredane L, Siddique T, Roses AD, Massey EW. Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet. 1987 Oct;28(2):403–410.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

October 1987

Volume

28

Issue

2

Start / End Page

403 / 410

Location

United States

Related Subject Headings

  • Pedigree
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genetic Counseling
  • Female
  • Erythrocytes, Abnormal
  • Diagnosis, Differential
  • Deglutition Disorders