FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308993383> ?p ?o ?g. }

• W4308993383 endingPage "377" @default.
• W4308993383 startingPage "368" @default.
• W4308993383 abstract "Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats have cast doubt on the established cutoff values of the expansions and the phenotypic spectrum of this disorder. The objective of this systematic review was to explore the genotype-phenotype relationships for repeat expansions in TBP to delineate the ATX-TBP phenotype and reevaluate the pathological range of repeat expansions. The International Parkinson and Movement Disorder Society Genetic Mutation Database (MDSGene) standardized data extraction protocol was followed. Clinically affected carriers of reported ATX-TBP expansions were included. Publications that contained repeat sizes in screened cohorts of patients with PD and/or healthy individuals were included for a separate evaluation of cutoff values. Phenotypic and genotypic data for 346 ATX-TBP patients were curated. Overall, 97.7% of the patients had ≥41 repeats, while 99.6% of patients with PD and 99.9% of healthy individuals had ≤42 repeats, with a gray zone of reduced penetrance between 41 and 45 repeats. Pure parkinsonism was more common in ATX-TBP patients with 41 to 45 repeats than in the group with ≥46 repeats, which conversely more often presented with a complex phenotype with mixed movement disorders. An updated genotype-phenotype assessment for ATX-TBP is provided, and new repeat expansion cutoff values of reduced penetrance (41-45 expanded repeats) and full penetrance (46-66 expanded repeats) are proposed. These adjusted cutoff values will have diagnostic and counseling implications and may guide future clinical trial protocol. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society." @default.
• W4308993383 created "2022-11-20" @default.
• W4308993383 creator A5000059029 @default.
• W4308993383 creator A5006957027 @default.
• W4308993383 creator A5012229391 @default.
• W4308993383 creator A5012547153 @default.
• W4308993383 creator A5024773860 @default.
• W4308993383 creator A5052760777 @default.
• W4308993383 creator A5069996052 @default.
• W4308993383 creator A5080775510 @default.
• W4308993383 creator A5081902700 @default.
• W4308993383 creator A5087469218 @default.
• W4308993383 date "2022-11-14" @default.
• W4308993383 modified "2023-10-08" @default.
• W4308993383 title "Genotype–Phenotype Correlations for <scp>ATX‐<i>TBP</i></scp> (<scp>SCA17</scp>): <scp>MDSGene</scp> Systematic Review" @default.
• W4308993383 cites W1613990573 @default.
• W4308993383 cites W1770091760 @default.
• W4308993383 cites W1808702725 @default.
• W4308993383 cites W1970972148 @default.
• W4308993383 cites W1972710911 @default.
• W4308993383 cites W1973038909 @default.
• W4308993383 cites W1974008939 @default.
• W4308993383 cites W1977137418 @default.
• W4308993383 cites W1978656078 @default.
• W4308993383 cites W1979258429 @default.
• W4308993383 cites W1985111599 @default.
• W4308993383 cites W1988550308 @default.
• W4308993383 cites W1993513971 @default.
• W4308993383 cites W1996346895 @default.
• W4308993383 cites W2005805377 @default.
• W4308993383 cites W2007698790 @default.
• W4308993383 cites W2010540852 @default.
• W4308993383 cites W2033594363 @default.
• W4308993383 cites W2037424371 @default.
• W4308993383 cites W2038539263 @default.
• W4308993383 cites W2038810354 @default.
• W4308993383 cites W2038895605 @default.
• W4308993383 cites W2040846154 @default.
• W4308993383 cites W2042166639 @default.
• W4308993383 cites W2047553510 @default.
• W4308993383 cites W2052836084 @default.
• W4308993383 cites W2073140341 @default.
• W4308993383 cites W2080550804 @default.
• W4308993383 cites W2084217106 @default.
• W4308993383 cites W2085240659 @default.
• W4308993383 cites W2090246361 @default.
• W4308993383 cites W2109943469 @default.
• W4308993383 cites W2114364233 @default.
• W4308993383 cites W2119194938 @default.
• W4308993383 cites W2120584724 @default.
• W4308993383 cites W2120736409 @default.
• W4308993383 cites W2123331715 @default.
• W4308993383 cites W2127734071 @default.
• W4308993383 cites W2128989600 @default.
• W4308993383 cites W2129507204 @default.
• W4308993383 cites W2132539907 @default.
• W4308993383 cites W2135704574 @default.
• W4308993383 cites W2135759997 @default.
• W4308993383 cites W2140657325 @default.
• W4308993383 cites W2144852146 @default.
• W4308993383 cites W2148014901 @default.
• W4308993383 cites W2159835759 @default.
• W4308993383 cites W2161990519 @default.
• W4308993383 cites W2163382163 @default.
• W4308993383 cites W2167334435 @default.
• W4308993383 cites W2169482727 @default.
• W4308993383 cites W2170070980 @default.
• W4308993383 cites W2221506660 @default.
• W4308993383 cites W2328496340 @default.
• W4308993383 cites W2346650316 @default.
• W4308993383 cites W2356490960 @default.
• W4308993383 cites W2623887734 @default.
• W4308993383 cites W2797194936 @default.
• W4308993383 cites W2898290174 @default.
• W4308993383 cites W2901373970 @default.
• W4308993383 cites W2908786340 @default.
• W4308993383 cites W2916533353 @default.
• W4308993383 cites W3100598802 @default.
• W4308993383 cites W3118615836 @default.
• W4308993383 cites W3125048882 @default.
• W4308993383 cites W3165077183 @default.
• W4308993383 cites W3181943197 @default.
• W4308993383 cites W3217006452 @default.
• W4308993383 cites W4205678803 @default.
• W4308993383 cites W4211080288 @default.
• W4308993383 cites W4211222744 @default.
• W4308993383 cites W4223935361 @default.
• W4308993383 cites W4235450169 @default.
• W4308993383 doi "https://doi.org/10.1002/mds.29278" @default.
• W4308993383 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36374860" @default.
• W4308993383 hasPublicationYear "2022" @default.
• W4308993383 type Work @default.
• W4308993383 citedByCount "2" @default.
• W4308993383 countsByYear W43089933832023 @default.
• W4308993383 crossrefType "journal-article" @default.
• W4308993383 hasAuthorship W4308993383A5000059029 @default.
• W4308993383 hasAuthorship W4308993383A5006957027 @default.
• W4308993383 hasAuthorship W4308993383A5012229391 @default.

• next