Familial Chiari malformation: a systematic review and illustrative cases

CONCLUSIONS: Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.PMID:38608294 | DOI:10.3171/2024.1.SPINE231277
Source: Journal of Neurosurgery.Spine - Category: Neurosurgery Authors: Source Type: research