FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2805610486> ?p ?o ?g. }

• W2805610486 endingPage "725" @default.
• W2805610486 startingPage "724" @default.
• W2805610486 abstract "We read with great interest the study by Boronat et al.1 which focused on frequency rate, magnetic resonance imaging (MRI) features, and the genetics of cerebellar lesions in tuberous sclerosis complex (TSC). Beside confirming in a large series that cerebellar lesions are common in TSC (about 26% of patients), the authors nicely showed that cerebellar lesions are: found in specific lobules of the posterior lobes (namely Crus-I, Crus-II, and lobule VIIB), often present folial retraction, and are almost exclusively linked to TSC2 gene mutations. The authors also pointed out several ancillary features such as rate of contrast enhancement or calcification and reviewed the relatively scarce literature on the topic. As cerebellar lesions obtain an increasing clinical role in TSC, especially for cognitive aspects and autism spectrum disorders, we would like to add our experience with another large series (Table 1) which aims to improve cerebellar lesion characterization and gain more insights into their pathogenesis. First of all, our centralized retrospective magnetic resonance evaluation confirmed four major findings: (1) the cerebellar lesions frequency-rate is close to 30% (44 cerebellar lesions affecting 34/112 patients with TSC); (2) the strict relationship with TSC2 gene mutations (91% of cerebellar lesions harbored TSC2 mutations; 32/69 [46%] patients with TSC2 had cerebellar lesions); (3) the specific vulnerability of the above mentioned posterior lobe cerebellar lobules; (4) and the dystrophic appearance of cerebellar lesions with folial retraction in almost all patients with TSC (33/34). In contrast, right-side prevalence was not confirmed, as cerebellar lesions were found equally on both sides (21/44 cerebellar lesions on the right; 23/44 on the left). In addition, looking more precisely into cerebellar lesion topography, our sample showed an intriguing intralobular regional vulnerability (Fig. 1) unveiling lesion clusters within the involved cerebellar lobules, thus providing possible hints about TSC-related cerebellar lesion pathogenesis. Most authors refer to cerebellar lesions as if they are purely dysplastic in nature, resembling those that appear in the supratentorial structures. Indeed, abnormal neurons and cortical/subcortical calcification are detected in both cortical tubers and cerebellar lesions.2 Nonetheless, some striking differences can be noted between supratentorial and infratentorial lesions. Cortical tubers, for example, are randomly distributed among the gyri so that virtually the whole cerebral cortex may be involved (tubers have even been detected in the olfactory bulbs).3 In contrast, infratentorial lesions typically spare large portions of the cerebellum; not only the anterior and posterior-lateral lobes and the vermis, but also the medial part of the posterior lobes. From a pathologic and imaging point of view, calcification seems to ensue earlier in cerebellar than in cerebral lesions, and supratentorial tubers usually result in enlargement of the affected gyri,4 while cerebellar lesions present with folial retraction with dystrophic rather than dysplastic appearance. Furthermore, unlike cortical tubers, cerebellar lesions are usually wedge-shaped and cluster in nearly side-to-side symmetric regions that resemble the watershed territories of the posterior inferior cerebellar artery.5 This peculiar topographic vulnerability is difficult to explain as the cerebellar cortex does not differ regionally in terms of structure or TSC2 expression,6 thus suggesting that other metabolic, vascular, or genetic factors likely concur in the pathogenesis of infratentorial TSC-related lesions. Recently, a pathological/MRI study2 investigated cerebellar lesions in a 32-year-old man with a TSC2 mutation, reporting prominent astrogliosis with few giant dysmorphic cells but no tuber-like foci. The extensive neuron loss with reactive changes was consistent with degenerative processes rather than developmental or hamartomatous alterations. Taken together, pathological and topographical findings strongly suggest a metabolic/vascular tissue vulnerability as a pivotal cofactor of cerebellar lesion pathogenesis. As cerebellar arteries show high interindividual variability, prospective MRI/magnetic resonance-angiography studies evaluating TSC-related cerebellar lesions and the concomitant anatomical pattern of posterior cranial fossa arteries could help to disentangle the role of regional vascularization in the pathogenesis of cerebellar lesions." @default.
• W2805610486 created "2018-06-13" @default.
• W2805610486 creator A5011039489 @default.
• W2805610486 creator A5016588523 @default.
• W2805610486 creator A5022033920 @default.
• W2805610486 creator A5031053480 @default.
• W2805610486 creator A5039901601 @default.
• W2805610486 creator A5049364247 @default.
• W2805610486 creator A5063572742 @default.
• W2805610486 creator A5085838749 @default.
• W2805610486 creator A5088528366 @default.
• W2805610486 date "2018-06-08" @default.
• W2805610486 modified "2023-09-27" @default.
• W2805610486 title "Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis" @default.
• W2805610486 cites W2040599964 @default.
• W2805610486 cites W2064175312 @default.
• W2805610486 cites W2094288030 @default.
• W2805610486 cites W2176512956 @default.
• W2805610486 cites W2743001602 @default.
• W2805610486 doi "https://doi.org/10.1111/dmcn.13769" @default.
• W2805610486 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29882962" @default.
• W2805610486 hasPublicationYear "2018" @default.
• W2805610486 type Work @default.
• W2805610486 sameAs 2805610486 @default.
• W2805610486 citedByCount "9" @default.
• W2805610486 countsByYear W28056104862018 @default.
• W2805610486 countsByYear W28056104862019 @default.
• W2805610486 countsByYear W28056104862020 @default.
• W2805610486 countsByYear W28056104862021 @default.
• W2805610486 countsByYear W28056104862022 @default.
• W2805610486 crossrefType "journal-article" @default.
• W2805610486 hasAuthorship W2805610486A5011039489 @default.
• W2805610486 hasAuthorship W2805610486A5016588523 @default.
• W2805610486 hasAuthorship W2805610486A5022033920 @default.
• W2805610486 hasAuthorship W2805610486A5031053480 @default.
• W2805610486 hasAuthorship W2805610486A5039901601 @default.
• W2805610486 hasAuthorship W2805610486A5049364247 @default.
• W2805610486 hasAuthorship W2805610486A5063572742 @default.
• W2805610486 hasAuthorship W2805610486A5085838749 @default.
• W2805610486 hasAuthorship W2805610486A5088528366 @default.
• W2805610486 hasBestOaLocation W28056104861 @default.
• W2805610486 hasConcept C126322002 @default.
• W2805610486 hasConcept C126838900 @default.
• W2805610486 hasConcept C142724271 @default.
• W2805610486 hasConcept C143409427 @default.
• W2805610486 hasConcept C190283241 @default.
• W2805610486 hasConcept C2776773979 @default.
• W2805610486 hasConcept C2778980267 @default.
• W2805610486 hasConcept C2779422105 @default.
• W2805610486 hasConcept C2779652256 @default.
• W2805610486 hasConcept C2992333117 @default.
• W2805610486 hasConcept C54355233 @default.
• W2805610486 hasConcept C71924100 @default.
• W2805610486 hasConcept C86554907 @default.
• W2805610486 hasConcept C86803240 @default.
• W2805610486 hasConceptScore W2805610486C126322002 @default.
• W2805610486 hasConceptScore W2805610486C126838900 @default.
• W2805610486 hasConceptScore W2805610486C142724271 @default.
• W2805610486 hasConceptScore W2805610486C143409427 @default.
• W2805610486 hasConceptScore W2805610486C190283241 @default.
• W2805610486 hasConceptScore W2805610486C2776773979 @default.
• W2805610486 hasConceptScore W2805610486C2778980267 @default.
• W2805610486 hasConceptScore W2805610486C2779422105 @default.
• W2805610486 hasConceptScore W2805610486C2779652256 @default.
• W2805610486 hasConceptScore W2805610486C2992333117 @default.
• W2805610486 hasConceptScore W2805610486C54355233 @default.
• W2805610486 hasConceptScore W2805610486C71924100 @default.
• W2805610486 hasConceptScore W2805610486C86554907 @default.
• W2805610486 hasConceptScore W2805610486C86803240 @default.
• W2805610486 hasIssue "7" @default.
• W2805610486 hasLocation W28056104861 @default.
• W2805610486 hasLocation W28056104862 @default.
• W2805610486 hasOpenAccess W2805610486 @default.
• W2805610486 hasPrimaryLocation W28056104861 @default.
• W2805610486 hasRelatedWork W1875020755 @default.
• W2805610486 hasRelatedWork W1931685279 @default.
• W2805610486 hasRelatedWork W2104582585 @default.
• W2805610486 hasRelatedWork W2134100931 @default.
• W2805610486 hasRelatedWork W2147677140 @default.
• W2805610486 hasRelatedWork W2805610486 @default.
• W2805610486 hasRelatedWork W3032641101 @default.
• W2805610486 hasRelatedWork W3202266851 @default.
• W2805610486 hasRelatedWork W4210610063 @default.
• W2805610486 hasRelatedWork W4213043570 @default.
• W2805610486 hasVolume "60" @default.
• W2805610486 isParatext "false" @default.
• W2805610486 isRetracted "false" @default.
• W2805610486 magId "2805610486" @default.
• W2805610486 workType "article" @default.