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

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

Research output: Contribution to journalArticle

29 Citations (Scopus)

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
Pages (from-to)403-410
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume28
Issue number2
StatePublished - Dec 1 1987
Externally publishedYes

Fingerprint

Neuroacanthocytosis
Genetic Counseling
Acanthocytes
Huntington Disease
Inheritance Patterns
Heterozygote
Nervous System Diseases
Lipoproteins
Japan
Differential Diagnosis
Magnetic Resonance Imaging
Serum

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Chorea-acanthocytosis : A report of three new families and implications for genetic counselling. / Vance, Jeffery M; Pericak-Vance, Margaret A; Bowman, M. H.; Payne, C. S.; Fredane, L.; Siddique, T.; Roses, A. D.; Massey, E. W.

In: American Journal of Medical Genetics, Vol. 28, No. 2, 01.12.1987, p. 403-410.

Research output: Contribution to journalArticle

Vance, JM, Pericak-Vance, MA, Bowman, MH, Payne, CS, Fredane, L, Siddique, T, Roses, AD & Massey, EW 1987, 'Chorea-acanthocytosis: A report of three new families and implications for genetic counselling', American Journal of Medical Genetics, vol. 28, no. 2, pp. 403-410.
Vance, Jeffery M ; Pericak-Vance, Margaret A ; Bowman, M. H. ; Payne, C. S. ; Fredane, L. ; Siddique, T. ; Roses, A. D. ; Massey, E. W. / Chorea-acanthocytosis : A report of three new families and implications for genetic counselling. In: American Journal of Medical Genetics. 1987 ; Vol. 28, No. 2. pp. 403-410.
@article{cbe92619bff847ec89fa7f7af76165c4,
title = "Chorea-acanthocytosis: A report of three new families and implications for genetic counselling",
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.",
author = "Vance, {Jeffery M} and Pericak-Vance, {Margaret A} and Bowman, {M. H.} and Payne, {C. S.} and L. Fredane and T. Siddique and Roses, {A. D.} and Massey, {E. W.}",
year = "1987",
month = "12",
day = "1",
language = "English",
volume = "28",
pages = "403--410",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Chorea-acanthocytosis

T2 - A report of three new families and implications for genetic counselling

AU - Vance, Jeffery M

AU - Pericak-Vance, Margaret A

AU - Bowman, M. H.

AU - Payne, C. S.

AU - Fredane, L.

AU - Siddique, T.

AU - Roses, A. D.

AU - Massey, E. W.

PY - 1987/12/1

Y1 - 1987/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0023491067&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023491067&partnerID=8YFLogxK

M3 - Article

C2 - 3322006

AN - SCOPUS:0023491067

VL - 28

SP - 403

EP - 410

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 2

ER -