Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.
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DOI：
10.3171/2011.12.peds11113
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发表时间：
2012-04
期刊：
影响因子：
--
通讯作者：
Iskandar BJ
中科院分区：
文献类型：
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作者：
Markunas CA;Tubbs RS;Moftakhar R;Ashley-Koch AE;Gregory SG;Oakes WJ;Speer MC;Iskandar BJ
虽然基亚里I型（CM-I）和0型（CM-0）畸形的特点，以前的临床和放射学，有没有研究集中在这些疾病之间可能的遗传联系。本研究的目的是确定CM-0和CM-I共同发生的家庭，并进一步评估这些疾病之间的相似性。通过CM-I先证者确定家系。获得详细的家族史以确定诊断为CM-0的一级亲属。使用几个标准排除获得性CM-I和/或脊髓灰质炎的个体。排除患有综合征、创伤性、感染性或肿瘤相关性脊髓炎以及由于幕上肿块、脑积水、与CM-I无关的颈部或头部手术史或在放置腰椎分流管后出现症状而导致的CM-I的个体。医疗记录和MR图像被用来描述CM-I和CM-0个体的临床和放射学特征。确定了5个家族，其中CM-I先证者与CM-0有一级亲属关系。对受影响个体的进一步评估显示，CM-0和CM-I个体之间的临床和放射学特征相似，尽管CM-I患者通常比其CM-0亲属具有更严重的症状和颅底异常。总体而言，两组在颅脑减压手术后症状和/或空洞大小均有所改善。越来越多的证据表明，CM-0和CM-I可能是由共同的潜在发育机制引起的。本研究中的数据与这一假设一致，显示CM-0和CM-I个体之间具有相似的临床和放射学特征，以及家族内两种疾病的发生。CM-0和CM-I的家族聚集表明，这些疾病可能共享一个潜在的遗传基础，尽管额外的表观遗传和/或环境因素可能在CM-0与CM-I的发展中发挥重要作用。
Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders. Families were ascertained through a proband with CM-I. Detailed family histories were obtained to identify first-degree relatives diagnosed with CM-0. Several criteria were used to exclude individuals with acquired forms of CM-I and/or syringomyelia. Individuals were excluded with syndromic, traumatic, infectious, or tumor-related syringomyelia, as well as CM-I due to a supratentorial mass, hydrocephalus, history of cervical or cranial surgery unrelated to CM-I, or development of symptoms following placement of a lumbar shunt. Medical records and MR images were used to characterize CM-I and CM-0 individuals clinically and radiologically. Five families were identified in which the CM-I proband had a first-degree relative with CM-0. Further assessment of affected individuals showed similar clinical and radiological features between CM-0 and CM-I individuals, although CM-I patients in general had more severe symptoms and skull base abnormalities than their CM-0 relatives. Overall, both groups showed improvement in symptoms and/or syrinx size following craniocervical decompression surgery. There is accumulating evidence suggesting that CM-0 and CM-I may be caused by a common underlying developmental mechanism. The data in this study are consistent with this hypothesis, showing similar clinical and radiological features between CM-0 and CM-I individuals, as well as the occurrence of both disorders within families. Familial clustering of CM-0 and CM-I suggests that these disorders may share an underlying genetic basis, although additional epigenetic and/or environmental factors are likely to play an important role in the development of CM-0 versus CM-I.