Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.
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.
Vance
J M
JM
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Pericak-Vance
M A
MA
Bowman
M H
MH
Payne
C S
CS
Fredane
L
L
Siddique
T
T
Roses
A D
AD
Massey
E W
EW
D000050:Acanthocytes / Q000378:metabolism*; D000328:Adult; D001264:Athetosis / Q000097:blood / Q000235:genetics*; D002421:Caudate Nucleus / Q000473:pathology; D002819:Chorea / Q000097:blood / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D003680:Deglutition Disorders / Q000235:genetics*; D003937:Diagnosis, Differential; D004913:Erythrocytes, Abnormal / Q000378:metabolism*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D003402:Creatine Kinase