Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, 02114, USA.
Neurosurg Focus. 2011 Sep;31(3):E1. doi: 10.3171/2011.6.FOCUS11104.
Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.
Chiari 畸形（I-IV 型）是后颅窝的异常，影响小脑、脑干和脊髓，发病率为 0.1%-0.5%。Chiari 畸形家族聚集的病例报告、双胞胎研究、Chiari 畸形与已知遗传疾病的共分离以及最近的基因和全基因组关联研究为 Chiari 畸形的遗传基础提供了强有力的证据。作者报告了一系列 3 对 Chiari 畸形 I 型的家族对：2 对母女对和 1 对父女对。家族性 Chiari 畸形的确切遗传原因尚未完全阐明。作者回顾了文献并讨论了几个候选基因。对家族性 Chiari 畸形遗传影响和发病机制的理解的最新进展有望改善受影响患者的治疗和高危家庭成员的监测。
