Chiari malformation type I: what information from the genetics?

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Valeria CapraPatrizia De Marco

Abstract

Chiari malformation type I (CMI), a rare disorder of the craniocerebral junction with an estimated incidence of 1 in 1280, is characterized by the downward herniation of the cerebellar tonsils of at least 5 mm through the foramen magnum, resulting in significant neurologic morbidity. Classical CMI is thought to be caused by an underdeveloped occipital bone, resulting in a posterior cranial fossa which is too small to accommodate the normal-sized cerebellum. In this review, we dissect the lines of evidence supporting a genetic contribution for this disorder. We present the results of two types of approaches: animal models and human studies encompassing different study designs such as whole genome linkage analysis, case-control association studies, and expression studies. The update of the literature also includes the most recent findings emerged by whole exome sequencing strategy. Despite evidence for a genetic component, no major genes have been identified and the genetics of CMI is still very much unknown. One major challenge is the variability of clinical presentation within CMI patient population that reflects an underlying genetic heterogeneity. The identification of the genes that contribute to the etiology of CMI will pro...Continue Reading

References

May 1, 1992·Radiology·A D Elster, M Y Chen
Feb 1, 1992·Annals of Neurology·L J StovnerO Sjaastad
Apr 1, 1981·Journal of the Neurological Sciences·M Marin-Padilla, T M Marin-Padilla
Jan 1, 1995·Pediatric Neurology·B R Pober, J J Filiano
Mar 1, 1995·Journal of Neurosurgery·R K Cavender, J H Schmidt
Jul 1, 1994·The Journal of Pediatrics·R LindsayM Rallison
Mar 1, 1993·Clinical Pediatrics·J DooleyP Camfield
Jan 1, 1993·Intensive Care Medicine·A MartinotJ P Pruvo
Jun 6, 2000·Journal of Neurosurgery·J MeadowsB S Carson
Aug 2, 2001·British Journal of Neurosurgery·M Turgut
Nov 13, 2001·Developmental Cell·M MukhopadhyayH Westphal
Oct 7, 2005·Human Molecular Genetics·Eric B JohnsonJoachim Herz
May 9, 2006·Neurosurgical Focus·M C SpeerT H Milhorat
Jul 28, 2007·The International Journal of Biochemistry & Cell Biology·Panos G ZirosAthanasios G Papavassiliou
Jan 20, 2010·BMC Musculoskeletal Disorders·Alfredo Avellaneda FernándezJosé R Ramón
Mar 3, 2011·Journal of Neurosurgery. Pediatrics·R Shane TubbsW Jerry Oakes
Jul 28, 2011·Journal of Cellular Biochemistry·Grace L Lin, Kurt D Hankenson
Sep 29, 2011·Nature Reviews. Genetics·Michael J BamshadJay Shendure
Dec 24, 2013·Annals of Human Genetics·Christina A MarkunasAllison E Ashley-Koch
Aug 1, 2003·Journal of Genetic Counseling·Marcy C SpeerTimothy M George
Jul 30, 2015·Genes & Development·David M Ornitz, Pierre J Marie
Aug 19, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Shenell BernardR Shane Tubbs
Apr 3, 2016·Genes & Development·J Richard BrewerPhilippe Soriano
Oct 30, 2016·Seminars in Cell & Developmental Biology·Chia-Feng LiuVéronique Lefebvre

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Citations

Jul 17, 2020·Indian Journal of Pediatrics·Emine Ikbal AtliHakan Gurkan
Feb 20, 2021·Clinical Spine Surgery : a Spine Publication·Shiyuan HanYongning Li
Jun 26, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Federico BianchiLuca Massimi

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