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舞蹈病性棘红细胞增多症。临床诊断线索。

Choreoacanthocytosis. Clues to clinical diagnosis.

作者信息

Sakai T, Mawatari S, Iwashita H, Goto I, Kuroiwa Y

出版信息

Arch Neurol. 1981 Jun;38(6):335-8. doi: 10.1001/archneur.1981.00510060037003.

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.

摘要

棘红细胞增多症、咬舌、周围神经去神经支配以及血清肌酸磷酸激酶水平升高在4例舞蹈病性棘红细胞增多症(3例家族性和1例散发性)中很常见,但在8例亨廷顿病中未见到。该综合征中精神衰退较轻,血清β-脂蛋白水平正常。如果舞蹈病性棘红细胞增多症是一种遗传病,可能为常染色体隐性遗传。

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