Choreoacanthocytosis. Clues to clinical diagnosis.

Abstract

Acanthocytosis, tongue-biting, denervation of the peripheral nerves, and increased levels of serum creatine phosphokinase were common in four cases, three familial and one sporadic, of choreoacanthocytosis, but were not seen in eight cases of Huntington's disease. Mental deterioration was minor and serum beta-lipoprotein levels were normal in this syndrome. Autosomal recessive inheritance is likely in choreoacanthocytosis, if it is a genetic disease.

• Authors: T Sakai, S Mawatari, H Iwashita, I Goto, Y Kuroiwa
• Journal: Archives of neurology (Arch Neurol) Vol. 38 Issue 6 Pg. 335-8 (Jun 1981) ISSN: 0003-9942 [Print] United States
• PMID: 6453575 (Publication Type: Journal Article)

Chemical References

• Creatine Kinase

Topics

• Acanthocytes
• Adult
• Chorea (blood, diagnosis, genetics)
• Creatine Kinase (blood)
• Diagnosis, Differential
• Erythrocytes, Abnormal
• Female
• Humans
• Huntington Disease (diagnosis)
• Male
• Middle Aged
• Physical Examination
• Syndrome