Clinical phenotypes among patients with familial forms of Chiari malformation type 1.

ABSTRACT:

Objective

Chiari malformation type 1 (CM1) is the most common neurological disorder of the craniocervical junction. CM1 is characterized by cerebellar tonsillar herniation below the foramen magnum, causing CSF obstruction and neural compression. Patients with CM1 suffer from highly variable symptoms, progression, comorbidities, and outcomes, partly due to poor understanding of CM1 pathogenesis. In this paper, the authors present the only familial CM1 cohort study to statistically assess intrafamilial clinical phenotypes to date.

Methods

Comprehensive medical, surgical, and family histories and neuroimaging were collected from families with multiple CM1-affected family members. Univariate analysis was performed for each symptom, comorbidity, or surgery to compare observed ver

SUBMITTER: Mekbib KY 

PROVIDER: S-EPMC12558010 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature