Matches in SemOpenAlex for { <https://semopenalex.org/work/W2231874639> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2231874639 endingPage "94" @default.
- W2231874639 startingPage "91" @default.
- W2231874639 abstract "Non-Wilsonian hepatolenticular degeneration (NWHD) is a heterogeneous neurological disorder occurring secondary to chronic acquired liver disease. Genetically determined familial NWHD is rare, poorly understood, and often mistaken for Wilson’s disease (WD). We analysed clinical and MRI profiles of NWHD patients who did not have obvious cause for acquired liver disease, such as alcohol intake or hepatitis. Six patients from four families (four males, two females, mean age: 17.0 ± standard deviation 7.9 years), presenting with chronic extrapyramidal disorder resembling WD and imaging (abdominal ultrasound/MRI) evidence of cirrhosis were studied. They lacked Kayser–Fleischer rings or biochemical and/or genetic evidence of WD. Clinical features included dystonia (n = 6), parkinsonism (n = 3), tremor (n = 1), cerebellar ataxia (n = 3), orofacial dyskinesia (n = 1), behavioural abnormalities (n = 3), and cognitive decline (n = 1). Brain MRI revealed T1-weighted hyperintensity in the pallidum (n = 6), crus cerebri (n = 4), putamen (n = 1), caudate (n = 1), thalamus (n = 1), and red nucleus (n = 1) with T2-weighted shortening in some of these regions. Additional findings included giant cisterna magna (n = 1), face of giant panda sign (n = 1) and thin corpus callosum (n = 1). Areas of “blooming” on susceptibility weighted images were noted in two patients in the caudate (n = 2) and putamen (n = 1). The finding of T1 shortening is distinct from that of WD where the majority of lesions are T1-hypointense and T2-hyperintense. Extrapallidal T1-hyperintensity is also an exceptional observation in NWHD. The MRI appearance of intense T1 shortening coupled with the lack of increased susceptibility changes suggests that the most likely mineral deposited is manganese. The association of this neurological disorder and cirrhosis of the liver in the absence of an acquired liver disease is a distinct disease entity. This syndrome may represent a disorder of manganese metabolism resulting in its toxic deposition." @default.
- W2231874639 created "2016-06-24" @default.
- W2231874639 creator A5005085166 @default.
- W2231874639 creator A5020684143 @default.
- W2231874639 creator A5028376325 @default.
- W2231874639 creator A5057398774 @default.
- W2231874639 creator A5065407425 @default.
- W2231874639 creator A5068187590 @default.
- W2231874639 creator A5074447894 @default.
- W2231874639 creator A5084676111 @default.
- W2231874639 date "2016-05-01" @default.
- W2231874639 modified "2023-09-27" @default.
- W2231874639 title "Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India" @default.
- W2231874639 cites W1972075230 @default.
- W2231874639 cites W2000304385 @default.
- W2231874639 cites W2007175737 @default.
- W2231874639 cites W2034413100 @default.
- W2231874639 cites W2052754660 @default.
- W2231874639 cites W2065938547 @default.
- W2231874639 cites W2076190196 @default.
- W2231874639 cites W2084481906 @default.
- W2231874639 cites W2095750277 @default.
- W2231874639 cites W2095908732 @default.
- W2231874639 cites W2104845348 @default.
- W2231874639 cites W2112105455 @default.
- W2231874639 cites W2121203420 @default.
- W2231874639 cites W2124735319 @default.
- W2231874639 cites W2149740167 @default.
- W2231874639 doi "https://doi.org/10.1016/j.jocn.2015.06.035" @default.
- W2231874639 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26765764" @default.
- W2231874639 hasPublicationYear "2016" @default.
- W2231874639 type Work @default.
- W2231874639 sameAs 2231874639 @default.
- W2231874639 citedByCount "8" @default.
- W2231874639 countsByYear W22318746392016 @default.
- W2231874639 countsByYear W22318746392017 @default.
- W2231874639 countsByYear W22318746392019 @default.
- W2231874639 countsByYear W22318746392020 @default.
- W2231874639 countsByYear W22318746392022 @default.
- W2231874639 countsByYear W22318746392023 @default.
- W2231874639 crossrefType "journal-article" @default.
- W2231874639 hasAuthorship W2231874639A5005085166 @default.
- W2231874639 hasAuthorship W2231874639A5020684143 @default.
- W2231874639 hasAuthorship W2231874639A5028376325 @default.
- W2231874639 hasAuthorship W2231874639A5057398774 @default.
- W2231874639 hasAuthorship W2231874639A5065407425 @default.
- W2231874639 hasAuthorship W2231874639A5068187590 @default.
- W2231874639 hasAuthorship W2231874639A5074447894 @default.
- W2231874639 hasAuthorship W2231874639A5084676111 @default.
- W2231874639 hasConcept C118552586 @default.
- W2231874639 hasConcept C126322002 @default.
- W2231874639 hasConcept C126838900 @default.
- W2231874639 hasConcept C142724271 @default.
- W2231874639 hasConcept C143409427 @default.
- W2231874639 hasConcept C146638467 @default.
- W2231874639 hasConcept C2776525014 @default.
- W2231874639 hasConcept C2778183499 @default.
- W2231874639 hasConcept C2778559928 @default.
- W2231874639 hasConcept C2779134260 @default.
- W2231874639 hasConcept C2779714222 @default.
- W2231874639 hasConcept C2780906641 @default.
- W2231874639 hasConcept C2781423529 @default.
- W2231874639 hasConcept C71924100 @default.
- W2231874639 hasConceptScore W2231874639C118552586 @default.
- W2231874639 hasConceptScore W2231874639C126322002 @default.
- W2231874639 hasConceptScore W2231874639C126838900 @default.
- W2231874639 hasConceptScore W2231874639C142724271 @default.
- W2231874639 hasConceptScore W2231874639C143409427 @default.
- W2231874639 hasConceptScore W2231874639C146638467 @default.
- W2231874639 hasConceptScore W2231874639C2776525014 @default.
- W2231874639 hasConceptScore W2231874639C2778183499 @default.
- W2231874639 hasConceptScore W2231874639C2778559928 @default.
- W2231874639 hasConceptScore W2231874639C2779134260 @default.
- W2231874639 hasConceptScore W2231874639C2779714222 @default.
- W2231874639 hasConceptScore W2231874639C2780906641 @default.
- W2231874639 hasConceptScore W2231874639C2781423529 @default.
- W2231874639 hasConceptScore W2231874639C71924100 @default.
- W2231874639 hasLocation W22318746391 @default.
- W2231874639 hasLocation W22318746392 @default.
- W2231874639 hasOpenAccess W2231874639 @default.
- W2231874639 hasPrimaryLocation W22318746391 @default.
- W2231874639 hasRelatedWork W1716150218 @default.
- W2231874639 hasRelatedWork W1995443052 @default.
- W2231874639 hasRelatedWork W2006804755 @default.
- W2231874639 hasRelatedWork W2036750918 @default.
- W2231874639 hasRelatedWork W2049803308 @default.
- W2231874639 hasRelatedWork W2060822566 @default.
- W2231874639 hasRelatedWork W2137651371 @default.
- W2231874639 hasRelatedWork W2388718606 @default.
- W2231874639 hasRelatedWork W2807044958 @default.
- W2231874639 hasRelatedWork W2185081648 @default.
- W2231874639 hasVolume "27" @default.
- W2231874639 isParatext "false" @default.
- W2231874639 isRetracted "false" @default.
- W2231874639 magId "2231874639" @default.
- W2231874639 workType "article" @default.