In:
Neurosurgical Focus, Journal of Neurosurgery Publishing Group (JNSPG), Vol. 31, No. 3 ( 2011-09), p. E1-
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
1092-0684
DOI:
10.3171/2011.6.FOCUS11104
Sprache:
Unbekannt
Verlag:
Journal of Neurosurgery Publishing Group (JNSPG)
Publikationsdatum:
2011
ZDB Id:
2026589-X
