Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.
Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.
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舞蹈病-棘红细胞增多症：三个新家族的报告及其对遗传咨询的影响。
DOI：
10.1002/ajmg.1320280219
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Massey,EW
中科院分区：
文献类型：
--
作者：
Vance,JM;Pericak-Vance,MA;Bowman,MH;Payne,CS;Fredane,L;Siddique,T;Roses,AD;Massey,EW
舞蹈病棘红细胞增多症（CHA）是一种罕见的遗传性神经系统疾病，伴有外周红细胞棘红细胞和正常血清脂蛋白水平。到目前为止，日本境外已报告有8个家庭患有这种疾病。我们描述了3个家族的4例CHA患者，并回顾了以往报告中的临床表现。此外，我们报告了这些患者的磁共振成像扫描。这些家族的遗传方式很可能是常染色体隐性遗传。专性杂合子湿标本相差显微镜下未见棘红细胞，3例先证者中2例初诊为亨廷顿舞蹈病。舞蹈病-棘红细胞增多症是诊断亨廷顿舞蹈病的重要鉴别诊断，在没有家族史的家族中应予以考虑。到目前为止，据报告患有先天性心脏病的家庭很少，这可能表明缺乏承认。
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.