Matches in SemOpenAlex for { <https://semopenalex.org/work/W191783485> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W191783485 endingPage "30" @default.
- W191783485 startingPage "19" @default.
- W191783485 abstract "Corticobasal syndrome (CBS) is a clinical syndrome presenting with progressive asymmetric bradykinesia, rigidity, and dystonia accompanied by cortical signs, such as apraxia, alien limb phenomena, cortical sensory loss, myoclonus, and mirror movements. CBS is associated with different pathological conditions including FTLD-tau (corticobasal degeneration, CBD; progressive supranuclear palsy, PSP: and Pick disease), FTLD-TDP, Alzheimer disease, Creutzfeldt-Jakob disease, and Parkinson disease/dementia with Lewy bodies. Among these, the most common pathology is CBD. In patients with familial and sporadic FTLD, MAPT, GRN and C9orf72 mutations are the three main causes of the disease, even though the C9orf72 mutation is rare in Japan. Patients with MAPT mutations present with FTLD-tau, and patients with GRN and C9orf72 mutations exhibit FTLD-TDP. FTLD is also associated with VCP, CHMP2B, TARDBP and FUS mutations, but each of these account for <1% of familial FTLD cases. In sporadic cases, the H1c haplotype and the rare p.A152T variant of MAPT are known to be associated with FTLD-tau, and the common genetic variant (rs5848) in the 3'-UTR of GRN is associated with FTLD-TDP. A recent genome-wide association study identified TMEM106B as a potential risk-modifying factor for FTLD-TDP, and STX6, EIF2AK3 and MOBP, for PSP. Despite major advances in genetic studies in recent years, the majority of sporadic CBS cases are genetically unsolved. Further studies are needed to unveil the genetic background of CBS. In this review, we discuss the recent advances related to the genetics of CBS, particularly about the genetics of FTLD." @default.
- W191783485 created "2016-06-24" @default.
- W191783485 creator A5024870998 @default.
- W191783485 creator A5050964668 @default.
- W191783485 date "2013-01-01" @default.
- W191783485 modified "2023-10-14" @default.
- W191783485 title "[The genetics of corticobasal syndrome]." @default.
- W191783485 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23300100" @default.
- W191783485 hasPublicationYear "2013" @default.
- W191783485 type Work @default.
- W191783485 sameAs 191783485 @default.
- W191783485 citedByCount "1" @default.
- W191783485 countsByYear W1917834852023 @default.
- W191783485 crossrefType "journal-article" @default.
- W191783485 hasAuthorship W191783485A5024870998 @default.
- W191783485 hasAuthorship W191783485A5050964668 @default.
- W191783485 hasConcept C142724271 @default.
- W191783485 hasConcept C15744967 @default.
- W191783485 hasConcept C169760540 @default.
- W191783485 hasConcept C2776477761 @default.
- W191783485 hasConcept C2776818353 @default.
- W191783485 hasConcept C2776936178 @default.
- W191783485 hasConcept C2776939681 @default.
- W191783485 hasConcept C2777898937 @default.
- W191783485 hasConcept C2778559928 @default.
- W191783485 hasConcept C2778641062 @default.
- W191783485 hasConcept C2779134260 @default.
- W191783485 hasConcept C2779422653 @default.
- W191783485 hasConcept C2779483572 @default.
- W191783485 hasConcept C2780596555 @default.
- W191783485 hasConcept C2781394247 @default.
- W191783485 hasConcept C54355233 @default.
- W191783485 hasConcept C71924100 @default.
- W191783485 hasConcept C86803240 @default.
- W191783485 hasConceptScore W191783485C142724271 @default.
- W191783485 hasConceptScore W191783485C15744967 @default.
- W191783485 hasConceptScore W191783485C169760540 @default.
- W191783485 hasConceptScore W191783485C2776477761 @default.
- W191783485 hasConceptScore W191783485C2776818353 @default.
- W191783485 hasConceptScore W191783485C2776936178 @default.
- W191783485 hasConceptScore W191783485C2776939681 @default.
- W191783485 hasConceptScore W191783485C2777898937 @default.
- W191783485 hasConceptScore W191783485C2778559928 @default.
- W191783485 hasConceptScore W191783485C2778641062 @default.
- W191783485 hasConceptScore W191783485C2779134260 @default.
- W191783485 hasConceptScore W191783485C2779422653 @default.
- W191783485 hasConceptScore W191783485C2779483572 @default.
- W191783485 hasConceptScore W191783485C2780596555 @default.
- W191783485 hasConceptScore W191783485C2781394247 @default.
- W191783485 hasConceptScore W191783485C54355233 @default.
- W191783485 hasConceptScore W191783485C71924100 @default.
- W191783485 hasConceptScore W191783485C86803240 @default.
- W191783485 hasIssue "1" @default.
- W191783485 hasLocation W1917834851 @default.
- W191783485 hasOpenAccess W191783485 @default.
- W191783485 hasPrimaryLocation W1917834851 @default.
- W191783485 hasRelatedWork W1806652764 @default.
- W191783485 hasRelatedWork W191783485 @default.
- W191783485 hasRelatedWork W2007785503 @default.
- W191783485 hasRelatedWork W2109383181 @default.
- W191783485 hasRelatedWork W2142720569 @default.
- W191783485 hasRelatedWork W2987258787 @default.
- W191783485 hasRelatedWork W4283451718 @default.
- W191783485 hasRelatedWork W4283831365 @default.
- W191783485 hasRelatedWork W66009471 @default.
- W191783485 hasRelatedWork W2340237127 @default.
- W191783485 hasVolume "65" @default.
- W191783485 isParatext "false" @default.
- W191783485 isRetracted "false" @default.
- W191783485 magId "191783485" @default.
- W191783485 workType "article" @default.