1. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
- Author
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Qureshi HM, Mekbib KY, Allington G, Elsamadicy AA, Duy PQ, Kundishora AJ, Jin SC, and Kahle KT
- Subjects
- Humans, Agenesis of Corpus Callosum, Brain diagnostic imaging, Brain pathology, Syndrome, Magnetic Resonance Imaging, Arachnoid Cysts diagnostic imaging, Arachnoid Cysts genetics, Arachnoid Cysts pathology
- 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 evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients., (© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2023
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