title: Familial Chiari malformation: case series.
abstract: 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.
authors: Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, 02114, USA.
authors: Benjamin D
authors: BD
authors: Schanker
authors: Brian P
authors: BP
authors: Walcott
authors: Brian V
authors: BV
authors: Nahed
authors: Kristopher T
authors: KT
authors: Kahle
authors: Yan Michael
authors: YM
authors: Li
authors: Jean-Valery C E
authors: JV
authors: Coumans
mesh_terms: D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D001921:Brain / Q000473:pathology; D003399:Craniotomy / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D007796:Laminectomy / Q000379:methods; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D014786:Vision Disorders / Q000209:etiology; D055815:Young Adult