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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.

DOI:10.1001/archneur.1981.00510060037003
PMID:6453575
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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Choreoacanthocytosis. Clues to clinical diagnosis.舞蹈病性棘红细胞增多症。临床诊断线索。
Arch Neurol. 1981 Jun;38(6):335-8. doi: 10.1001/archneur.1981.00510060037003.
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J Mov Disord. 2015 May;8(2):41-54. doi: 10.14802/jmd.15009. Epub 2015 May 31.
2
Neuroacanthocytosis in china: a review of published reports.中国的神经棘红细胞增多症:已发表报告综述
Tremor Other Hyperkinet Mov (N Y). 2014 Oct 31;4:248. doi: 10.7916/D8Q23XDX. eCollection 2014.
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Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings.2名兄弟姐妹神经棘红细胞增多症中小脑萎缩的表现。
AJNR Am J Neuroradiol. 2009 Feb;30(2):386-8. doi: 10.3174/ajnr.A1282. Epub 2008 Oct 22.
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Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study.
Ital J Neurol Sci. 1993 Jan;14(1):49-54. doi: 10.1007/BF02339042.
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The athetoid syndrome. A review of a personal series.手足徐动症综合征。个人病例系列回顾。
J Neurol Neurosurg Psychiatry. 1983 Apr;46(4):289-98. doi: 10.1136/jnnp.46.4.289.
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Amyotrophic choreoacanthocytosis: is it really a very rare disease?肌萎缩性舞蹈病性棘红细胞增多症:它真的是一种非常罕见的疾病吗?
Ital J Neurol Sci. 1986 Oct;7(5):521-4. doi: 10.1007/BF02342031.
7
Positron emission tomography in cases of chorea with different underlying diseases.不同潜在疾病所致舞蹈症病例中的正电子发射断层扫描
J Neurol Neurosurg Psychiatry. 1987 Oct;50(10):1284-7. doi: 10.1136/jnnp.50.10.1284.
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J Neurol. 1992 May;239(5):261-2. doi: 10.1007/BF00810348.