Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

ABSTRACT: Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic

SUBMITTER: Qureshi HM 

PROVIDER: S-EPMC10388392 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature