{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T21:56:39Z","timestamp":1774907799282,"version":"3.50.1"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"23","license":[{"start":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T00:00:00Z","timestamp":1696636800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Idiopathic normal pressure hydrocephalus is a disorder of unknown pathophysiology whose diagnosis is paradoxically made by a positive response to its proposed treatment with cerebrospinal fluid diversion. There are currently no idiopathic normal pressure hydrocephalus disease genes or biomarkers. A systematic analysis of familial idiopathic normal pressure hydrocephalus could aid in clinical diagnosis, prognosis, and treatment stratification, and elucidate disease patho-etiology. In this 2-part analysis, we review literature-based evidence for inheritance of idiopathic normal pressure hydrocephalus in 22 pedigrees, and then present a novel case series of 8 familial idiopathic normal pressure hydrocephalus patients. For the case series, demographics, familial history, pre- and post-operative symptoms, and cortical pathology were collected. All novel familial idiopathic normal pressure hydrocephalus patients exhibited improvement following shunt treatment and absence of neurodegenerative cortical pathology (amyloid-beta and hyperphosphorylated tau), in contrast to many sporadic cases of idiopathic normal pressure hydrocephalus with variable clinical responses. Analysis of the 30 total familial idiopathic normal pressure hydrocephalus cases reported herein is highly suggestive of an autosomal dominant mechanism of inheritance. This largest-ever presentation of multiply affected idiopathic normal pressure hydrocephalus pedigrees provides strong evidence for Mendelian inheritance and autosomal dominant transmission of an idiopathic normal pressure hydrocephalus trait in a subset of patients that positively respond to shunting and lack neurodegenerative pathology. Genomic investigation of these families may identify the first bona fide idiopathic normal pressure hydrocephalus disease gene.<\/jats:p>","DOI":"10.1093\/cercor\/bhad374","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T03:41:00Z","timestamp":1696909260000},"page":"11400-11407","source":"Crossref","is-referenced-by-count":7,"title":["Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis"],"prefix":"10.1093","volume":"33","author":[{"given":"Ana B W","family":"Greenberg","sequence":"first","affiliation":[{"name":"Massachusetts General Hospital Department of Neurosurgery, , Boston, MA 02114 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neel H","family":"Mehta","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital Department of Neurosurgery, , Boston, MA 02114 , United 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