FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387472734> ?p ?o ?g. }

• W4387472734 abstract "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." @default.
• W4387472734 created "2023-10-11" @default.
• W4387472734 creator A5005004760 @default.
• W4387472734 creator A5040914154 @default.
• W4387472734 creator A5049344307 @default.
• W4387472734 creator A5056980089 @default.
• W4387472734 creator A5058936141 @default.
• W4387472734 creator A5068688487 @default.
• W4387472734 creator A5077543967 @default.
• W4387472734 creator A5085777770 @default.
• W4387472734 creator A5086364724 @default.
• W4387472734 creator A5088290114 @default.
• W4387472734 creator A5088881304 @default.
• W4387472734 creator A5089242485 @default.
• W4387472734 date "2023-10-07" @default.
• W4387472734 modified "2023-10-16" @default.
• W4387472734 title "Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis" @default.
• W4387472734 cites W1575312425 @default.
• W4387472734 cites W1921984554 @default.
• W4387472734 cites W1955709889 @default.
• W4387472734 cites W1965258209 @default.
• W4387472734 cites W1976786200 @default.
• W4387472734 cites W1991260533 @default.
• W4387472734 cites W2000992854 @default.
• W4387472734 cites W2004407425 @default.
• W4387472734 cites W2019900347 @default.
• W4387472734 cites W2030324463 @default.
• W4387472734 cites W2056439406 @default.
• W4387472734 cites W2066911279 @default.
• W4387472734 cites W2068821755 @default.
• W4387472734 cites W2081532260 @default.
• W4387472734 cites W2094518888 @default.
• W4387472734 cites W2105202422 @default.
• W4387472734 cites W2125959384 @default.
• W4387472734 cites W2137064285 @default.
• W4387472734 cites W2147976028 @default.
• W4387472734 cites W2159508688 @default.
• W4387472734 cites W2166011224 @default.
• W4387472734 cites W2307486544 @default.
• W4387472734 cites W2336408796 @default.
• W4387472734 cites W2418868031 @default.
• W4387472734 cites W2493355863 @default.
• W4387472734 cites W2554269924 @default.
• W4387472734 cites W2605986536 @default.
• W4387472734 cites W2794474152 @default.
• W4387472734 cites W2903075540 @default.
• W4387472734 cites W2937021693 @default.
• W4387472734 cites W2946266822 @default.
• W4387472734 cites W3122065698 @default.
• W4387472734 cites W3123704962 @default.
• W4387472734 cites W3126154048 @default.
• W4387472734 cites W3162739118 @default.
• W4387472734 cites W3189287025 @default.
• W4387472734 cites W3205878308 @default.
• W4387472734 cites W4223474154 @default.
• W4387472734 cites W4292229870 @default.
• W4387472734 cites W4308029594 @default.
• W4387472734 cites W890715343 @default.
• W4387472734 doi "https://doi.org/10.1093/cercor/bhad374" @default.
• W4387472734 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37814356" @default.
• W4387472734 hasPublicationYear "2023" @default.
• W4387472734 type Work @default.
• W4387472734 citedByCount "0" @default.
• W4387472734 crossrefType "journal-article" @default.
• W4387472734 hasAuthorship W4387472734A5005004760 @default.
• W4387472734 hasAuthorship W4387472734A5040914154 @default.
• W4387472734 hasAuthorship W4387472734A5049344307 @default.
• W4387472734 hasAuthorship W4387472734A5056980089 @default.
• W4387472734 hasAuthorship W4387472734A5058936141 @default.
• W4387472734 hasAuthorship W4387472734A5068688487 @default.
• W4387472734 hasAuthorship W4387472734A5077543967 @default.
• W4387472734 hasAuthorship W4387472734A5085777770 @default.
• W4387472734 hasAuthorship W4387472734A5086364724 @default.
• W4387472734 hasAuthorship W4387472734A5088290114 @default.
• W4387472734 hasAuthorship W4387472734A5088881304 @default.
• W4387472734 hasAuthorship W4387472734A5089242485 @default.
• W4387472734 hasConcept C104317684 @default.
• W4387472734 hasConcept C137627325 @default.
• W4387472734 hasConcept C141071460 @default.
• W4387472734 hasConcept C142724271 @default.
• W4387472734 hasConcept C203083617 @default.
• W4387472734 hasConcept C22593422 @default.
• W4387472734 hasConcept C2778134817 @default.
• W4387472734 hasConcept C2779134260 @default.
• W4387472734 hasConcept C2779483572 @default.
• W4387472734 hasConcept C2781389367 @default.
• W4387472734 hasConcept C54355233 @default.
• W4387472734 hasConcept C71924100 @default.
• W4387472734 hasConcept C86803240 @default.
• W4387472734 hasConceptScore W4387472734C104317684 @default.
• W4387472734 hasConceptScore W4387472734C137627325 @default.
• W4387472734 hasConceptScore W4387472734C141071460 @default.
• W4387472734 hasConceptScore W4387472734C142724271 @default.
• W4387472734 hasConceptScore W4387472734C203083617 @default.
• W4387472734 hasConceptScore W4387472734C22593422 @default.
• W4387472734 hasConceptScore W4387472734C2778134817 @default.
• W4387472734 hasConceptScore W4387472734C2779134260 @default.
• W4387472734 hasConceptScore W4387472734C2779483572 @default.
• W4387472734 hasConceptScore W4387472734C2781389367 @default.
• W4387472734 hasConceptScore W4387472734C54355233 @default.

• next