Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313405517> ?p ?o ?g. }
- W4313405517 abstract "Neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited lysosomal storage disorders characterized by progressive neurodegeneration leading to motor and cognitive dysfunction, seizure activity and blindness. The disease can be caused by mutations in 1 of 13 ceroid lipofuscinosis neuronal (CLN) genes. Naturally occurring sheep models of the CLN5 and CLN6 neuronal ceroid lipofuscinoses recapitulate the clinical disease progression and post-mortem pathology of the human disease. We used longitudinal MRI to assess global and regional brain volume changes in CLN5 and CLN6 affected sheep compared to age-matched controls over 18 months. In both models, grey matter volume progressively decreased over time, while cerebrospinal fluid volume increased in affected sheep compared with controls. Total grey matter volume showed a strong positive correlation with clinical scores, while cerebrospinal fluid volume was negatively correlated with clinical scores. Cortical regions in affected animals showed significant atrophy at baseline (5 months of age) and progressively declined over the disease course. Subcortical regions were relatively spared with the exception of the caudate nucleus in CLN5 affected animals that degenerated rapidly at end-stage disease. Our results, which indicate selective vulnerability and provide a timeline of degeneration of specific brain regions in two sheep models of neuronal ceroid lipofuscinoses, will provide a clinically relevant benchmark for assessing therapeutic efficacy in subsequent trials of gene therapy for CLN5 and CLN6 disease." @default.
- W4313405517 created "2023-01-06" @default.
- W4313405517 creator A5001680547 @default.
- W4313405517 creator A5006547890 @default.
- W4313405517 creator A5020039383 @default.
- W4313405517 creator A5034393063 @default.
- W4313405517 creator A5038359452 @default.
- W4313405517 creator A5040795882 @default.
- W4313405517 creator A5044019850 @default.
- W4313405517 creator A5054393364 @default.
- W4313405517 creator A5062836668 @default.
- W4313405517 creator A5081825663 @default.
- W4313405517 creator A5084459207 @default.
- W4313405517 date "2022-12-29" @default.
- W4313405517 modified "2023-09-27" @default.
- W4313405517 title "Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis" @default.
- W4313405517 cites W1516872998 @default.
- W4313405517 cites W1840441345 @default.
- W4313405517 cites W1951724000 @default.
- W4313405517 cites W1969439586 @default.
- W4313405517 cites W1989412224 @default.
- W4313405517 cites W2008075359 @default.
- W4313405517 cites W2010126457 @default.
- W4313405517 cites W2033915203 @default.
- W4313405517 cites W2041057649 @default.
- W4313405517 cites W2041754385 @default.
- W4313405517 cites W2044650614 @default.
- W4313405517 cites W2045480080 @default.
- W4313405517 cites W2074964200 @default.
- W4313405517 cites W2078557934 @default.
- W4313405517 cites W2083505668 @default.
- W4313405517 cites W2091191470 @default.
- W4313405517 cites W2097005698 @default.
- W4313405517 cites W2113916316 @default.
- W4313405517 cites W2116854612 @default.
- W4313405517 cites W2193893278 @default.
- W4313405517 cites W2307888872 @default.
- W4313405517 cites W2406913605 @default.
- W4313405517 cites W2415303852 @default.
- W4313405517 cites W2511883439 @default.
- W4313405517 cites W2532535765 @default.
- W4313405517 cites W2532928124 @default.
- W4313405517 cites W2767510675 @default.
- W4313405517 cites W2883225588 @default.
- W4313405517 cites W2888254263 @default.
- W4313405517 cites W2955165659 @default.
- W4313405517 cites W2960819626 @default.
- W4313405517 cites W3082486626 @default.
- W4313405517 cites W3082773856 @default.
- W4313405517 cites W3167490806 @default.
- W4313405517 cites W3212800440 @default.
- W4313405517 cites W32417562 @default.
- W4313405517 cites W386919886 @default.
- W4313405517 cites W4220960206 @default.
- W4313405517 cites W4221016372 @default.
- W4313405517 cites W4282837588 @default.
- W4313405517 cites W637887209 @default.
- W4313405517 doi "https://doi.org/10.1093/braincomms/fcac339" @default.
- W4313405517 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36632184" @default.
- W4313405517 hasPublicationYear "2022" @default.
- W4313405517 type Work @default.
- W4313405517 citedByCount "1" @default.
- W4313405517 countsByYear W43134055172023 @default.
- W4313405517 crossrefType "journal-article" @default.
- W4313405517 hasAuthorship W4313405517A5001680547 @default.
- W4313405517 hasAuthorship W4313405517A5006547890 @default.
- W4313405517 hasAuthorship W4313405517A5020039383 @default.
- W4313405517 hasAuthorship W4313405517A5034393063 @default.
- W4313405517 hasAuthorship W4313405517A5038359452 @default.
- W4313405517 hasAuthorship W4313405517A5040795882 @default.
- W4313405517 hasAuthorship W4313405517A5044019850 @default.
- W4313405517 hasAuthorship W4313405517A5054393364 @default.
- W4313405517 hasAuthorship W4313405517A5062836668 @default.
- W4313405517 hasAuthorship W4313405517A5081825663 @default.
- W4313405517 hasAuthorship W4313405517A5084459207 @default.
- W4313405517 hasBestOaLocation W43134055171 @default.
- W4313405517 hasConcept C126838900 @default.
- W4313405517 hasConcept C142724271 @default.
- W4313405517 hasConcept C143409427 @default.
- W4313405517 hasConcept C15744967 @default.
- W4313405517 hasConcept C169760540 @default.
- W4313405517 hasConcept C186198217 @default.
- W4313405517 hasConcept C2776925932 @default.
- W4313405517 hasConcept C2778013878 @default.
- W4313405517 hasConcept C2778230176 @default.
- W4313405517 hasConcept C2778650512 @default.
- W4313405517 hasConcept C2779134260 @default.
- W4313405517 hasConcept C2779651940 @default.
- W4313405517 hasConcept C2781172350 @default.
- W4313405517 hasConcept C2781192897 @default.
- W4313405517 hasConcept C65835030 @default.
- W4313405517 hasConcept C71924100 @default.
- W4313405517 hasConceptScore W4313405517C126838900 @default.
- W4313405517 hasConceptScore W4313405517C142724271 @default.
- W4313405517 hasConceptScore W4313405517C143409427 @default.
- W4313405517 hasConceptScore W4313405517C15744967 @default.
- W4313405517 hasConceptScore W4313405517C169760540 @default.
- W4313405517 hasConceptScore W4313405517C186198217 @default.
- W4313405517 hasConceptScore W4313405517C2776925932 @default.
- W4313405517 hasConceptScore W4313405517C2778013878 @default.