학술논문
Choreoacanthocytosis. Clues to clinical diagnosis.
Document Type
Academic Journal
Author
Source
Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372436 Publication Model: Print Cited Medium: Print ISSN: 0003-9942 (Print) Linking ISSN: 00039942 NLM ISO Abbreviation: Arch Neurol Subsets: MEDLINE
Subject
Language
English
ISSN
0003-9942
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.