FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2944070994> ?p ?o ?g. }

• W2944070994 endingPage "e2690" @default.
• W2944070994 startingPage "e2679" @default.
• W2944070994 abstract "Objective We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 ( SPG7 ). Methods We analyzed clinical and genetic data from 241 patients with SPG7 , integrating neurologic follow-up data. One case was examined neuropathologically. Results Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria ( p < 0.05), deep sensory loss ( p < 0.01), muscle wasting ( p < 0.01), ophthalmoplegia ( p < 0.05), and sphincter dysfunction ( p < 0.05) than those with a shorter duration (<10 years, n = 93). Progression, measured by Scale for the Assessment and Rating of Ataxia evaluations, showed a mean annual increase of 1.0 ± 1.4 points in a subgroup of 30 patients. Patients homozygous for loss of function (LOF) variants (n = 65) presented significantly more often with pyramidal signs ( p < 0.05), diminished visual acuity due to optic atrophy ( p < 0.0001), and deep sensory loss ( p < 0.0001) than those with at least 1 missense variant (n = 176). Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, p < 0.05) and showed ataxia at onset ( p < 0.05). Neuropathologic examination revealed reduction of the pyramidal tract in the medulla oblongata and moderate loss of Purkinje cells and substantia nigra neurons. Conclusions This is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant." @default.
• W2944070994 created "2019-05-16" @default.
• W2944070994 creator A5003475121 @default.
• W2944070994 creator A5005301105 @default.
• W2944070994 creator A5006492716 @default.
• W2944070994 creator A5013393582 @default.
• W2944070994 creator A5013428782 @default.
• W2944070994 creator A5014203878 @default.
• W2944070994 creator A5024174241 @default.
• W2944070994 creator A5026565602 @default.
• W2944070994 creator A5027293126 @default.
• W2944070994 creator A5027489586 @default.
• W2944070994 creator A5031917279 @default.
• W2944070994 creator A5037328125 @default.
• W2944070994 creator A5037871190 @default.
• W2944070994 creator A5039383646 @default.
• W2944070994 creator A5039614344 @default.
• W2944070994 creator A5043707589 @default.
• W2944070994 creator A5046900294 @default.
• W2944070994 creator A5055483758 @default.
• W2944070994 creator A5061400375 @default.
• W2944070994 creator A5062355834 @default.
• W2944070994 creator A5064357836 @default.
• W2944070994 creator A5067875612 @default.
• W2944070994 creator A5073905238 @default.
• W2944070994 creator A5076004371 @default.
• W2944070994 creator A5078198625 @default.
• W2944070994 creator A5079163230 @default.
• W2944070994 creator A5081702044 @default.
• W2944070994 creator A5082524383 @default.
• W2944070994 creator A5083805105 @default.
• W2944070994 creator A5084340584 @default.
• W2944070994 creator A5086158554 @default.
• W2944070994 creator A5086322846 @default.
• W2944070994 creator A5087613307 @default.
• W2944070994 creator A5088519121 @default.
• W2944070994 creator A5088943659 @default.
• W2944070994 creator A5038211491 @default.
• W2944070994 date "2019-05-08" @default.
• W2944070994 modified "2023-10-17" @default.
• W2944070994 title "Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>" @default.
• W2944070994 cites W1820977370 @default.
• W2944070994 cites W1987527365 @default.
• W2944070994 cites W1990917848 @default.
• W2944070994 cites W1999411713 @default.
• W2944070994 cites W1999984919 @default.
• W2944070994 cites W2001703722 @default.
• W2944070994 cites W2006430824 @default.
• W2944070994 cites W2006787533 @default.
• W2944070994 cites W2015860806 @default.
• W2944070994 cites W2020958799 @default.
• W2944070994 cites W2045250097 @default.
• W2944070994 cites W2068619217 @default.
• W2944070994 cites W2087817133 @default.
• W2944070994 cites W2094990861 @default.
• W2944070994 cites W2101461293 @default.
• W2944070994 cites W2106357420 @default.
• W2944070994 cites W2108524651 @default.
• W2944070994 cites W2117257456 @default.
• W2944070994 cites W2126278820 @default.
• W2944070994 cites W2141266653 @default.
• W2944070994 cites W2145091492 @default.
• W2944070994 cites W2165524515 @default.
• W2944070994 cites W2168462034 @default.
• W2944070994 cites W2182706109 @default.
• W2944070994 cites W2588585948 @default.
• W2944070994 cites W2607162650 @default.
• W2944070994 cites W2789404437 @default.
• W2944070994 cites W2810599974 @default.
• W2944070994 cites W2887151989 @default.
• W2944070994 cites W2893362126 @default.
• W2944070994 cites W2898563955 @default.
• W2944070994 doi "https://doi.org/10.1212/wnl.0000000000007606" @default.
• W2944070994 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6556095" @default.
• W2944070994 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31068484" @default.
• W2944070994 hasPublicationYear "2019" @default.
• W2944070994 type Work @default.
• W2944070994 sameAs 2944070994 @default.
• W2944070994 citedByCount "45" @default.
• W2944070994 countsByYear W29440709942019 @default.
• W2944070994 countsByYear W29440709942020 @default.
• W2944070994 countsByYear W29440709942021 @default.
• W2944070994 countsByYear W29440709942022 @default.
• W2944070994 countsByYear W29440709942023 @default.
• W2944070994 crossrefType "journal-article" @default.
• W2944070994 hasAuthorship W2944070994A5003475121 @default.
• W2944070994 hasAuthorship W2944070994A5005301105 @default.
• W2944070994 hasAuthorship W2944070994A5006492716 @default.
• W2944070994 hasAuthorship W2944070994A5013393582 @default.
• W2944070994 hasAuthorship W2944070994A5013428782 @default.
• W2944070994 hasAuthorship W2944070994A5014203878 @default.
• W2944070994 hasAuthorship W2944070994A5024174241 @default.
• W2944070994 hasAuthorship W2944070994A5026565602 @default.
• W2944070994 hasAuthorship W2944070994A5027293126 @default.
• W2944070994 hasAuthorship W2944070994A5027489586 @default.
• W2944070994 hasAuthorship W2944070994A5031917279 @default.
• W2944070994 hasAuthorship W2944070994A5037328125 @default.
• W2944070994 hasAuthorship W2944070994A5037871190 @default.

• next