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

Autor:	Qureshi HM; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States., Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, United States., Allington G; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, United States.; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, United States., Elsamadicy AA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States., Duy PQ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, United States., Kahle KT; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, United States.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States.; Department of Neurology, Harvard Medical School, Boston, MA 02115, United States.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Jazyk:	angličtina
Zdroj:	Cerebral cortex (New York, N.Y. : 1991) [Cereb Cortex] 2023 Mar 10; Vol. 33 (6), pp. 3012-3025.
DOI:	10.1093/cercor/bhac257
Abstrakt:	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.)
Databáze:	MEDLINE
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