Familial Chiari malformation: case series

被引:23
作者
Schanker, Benjamin D. [1 ,2 ]
Walcott, Brian P. [1 ,2 ]
Nahed, Brian V. [1 ,2 ]
Kahle, Kristopher T. [1 ,2 ]
Li, Yan Michael [3 ]
Coumans, Jean-Valery C. E. [1 ,2 ]
机构
[1] Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
[3] SUNY Syracuse, Upstate Med Univ, Dept Neurosurg, Syracuse, NY USA
关键词
Chiari malformation; familial; genetic; posterior fossa; cerebellum; surgery; KLIPPEL-FEIL-SYNDROME; FEMALE MONOZYGOTIC TWINS; POSTERIOR CRANIAL FOSSA; I MALFORMATION; CRANIOFRONTONASAL SYNDROME; TONSILLAR ECTOPIA; 1ST-DEGREE RELATIVES; SIBLINGS; SYRINGOMYELIA; MUTATIONS;
D O I
10.3171/2011.6.FOCUS11104
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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. (DOI: 10.3171/2011.6.FOCUS11104)
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页数:6
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