FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2918454015> ?p ?o ?g. }

• W2918454015 endingPage "1090" @default.
• W2918454015 startingPage "1079" @default.
• W2918454015 abstract "To report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia.Six members from a kindred with 15 affected individuals spanning three generations, suffered from spasticity without muscle atrophy or fasciculation, starting in the lower limbs and spreading to the upper limbs and bulbar musculature, followed by effortful speech, nonfluent language and dementia, in 5 deceased members. Disease onset was during the sixth decade of life, or later. Cerebellar ataxia was the inaugural manifestation in two patients, and parkinsonism, in another.Neuropathological examination in two patients demonstrated degeneration of lateral corticospinal tracts in the spinal cord, without loss of spinal, brainstem, or cerebral motor neurons. Greater loss of corticospinal fibers at sacral and lumbar, rather than at cervical or medullary levels was demonstrated, supporting a central axonal dying-back pathogenic mechanism. Marked reduction of myelin and nerve fibers in the frontal lobes was also present. Argyrophilic grain disease and primary age-related tauopathy were found in one case each, and considered incidental findings. Genetic testing, including exome sequencing aimed at PLS, ataxia, hereditary spastic paraplegia, and frontotemporal lobe dementia, triplet-repeated primed polymerase chain reaction aimed at dominant spinocerebellar ataxias, and massive sequencing of the human genome, yielded negative results.A central distal axonopathy affecting the corticospinal tract, exerted a pathogenic role in the dominantly inherited PLS-progressive nonfluent aphasia association, described herein. Further molecular studies are needed to identify the causative mutation in this disease." @default.
• W2918454015 created "2019-03-11" @default.
• W2918454015 creator A5001416778 @default.
• W2918454015 creator A5009021448 @default.
• W2918454015 creator A5015997910 @default.
• W2918454015 creator A5052043197 @default.
• W2918454015 creator A5054697212 @default.
• W2918454015 creator A5059343120 @default.
• W2918454015 creator A5073484928 @default.
• W2918454015 creator A5081035321 @default.
• W2918454015 creator A5085802125 @default.
• W2918454015 creator A5087349137 @default.
• W2918454015 date "2019-03-05" @default.
• W2918454015 modified "2023-10-16" @default.
• W2918454015 title "Hereditary primary lateral sclerosis and progressive nonfluent aphasia" @default.
• W2918454015 cites W1547342827 @default.
• W2918454015 cites W1589934608 @default.
• W2918454015 cites W1847168837 @default.
• W2918454015 cites W1907551740 @default.
• W2918454015 cites W192482171 @default.
• W2918454015 cites W1967674497 @default.
• W2918454015 cites W1971032265 @default.
• W2918454015 cites W1979535750 @default.
• W2918454015 cites W1982825919 @default.
• W2918454015 cites W1985854143 @default.
• W2918454015 cites W2001487825 @default.
• W2918454015 cites W2005487413 @default.
• W2918454015 cites W2006070717 @default.
• W2918454015 cites W2008854521 @default.
• W2918454015 cites W2018293390 @default.
• W2918454015 cites W2028190721 @default.
• W2918454015 cites W2045753346 @default.
• W2918454015 cites W2045918603 @default.
• W2918454015 cites W2048233936 @default.
• W2918454015 cites W2050501965 @default.
• W2918454015 cites W2054243613 @default.
• W2918454015 cites W2058161128 @default.
• W2918454015 cites W2060308416 @default.
• W2918454015 cites W2063226511 @default.
• W2918454015 cites W2073042849 @default.
• W2918454015 cites W2074421823 @default.
• W2918454015 cites W2078260932 @default.
• W2918454015 cites W2082823926 @default.
• W2918454015 cites W2085240659 @default.
• W2918454015 cites W2086188566 @default.
• W2918454015 cites W2091792980 @default.
• W2918454015 cites W2094469765 @default.
• W2918454015 cites W2096386031 @default.
• W2918454015 cites W2096734155 @default.
• W2918454015 cites W2101018372 @default.
• W2918454015 cites W2102999969 @default.
• W2918454015 cites W2106280308 @default.
• W2918454015 cites W2111845093 @default.
• W2918454015 cites W2114866171 @default.
• W2918454015 cites W2116381266 @default.
• W2918454015 cites W2125859984 @default.
• W2918454015 cites W2126990072 @default.
• W2918454015 cites W2138190873 @default.
• W2918454015 cites W2139355677 @default.
• W2918454015 cites W2139680986 @default.
• W2918454015 cites W2142632263 @default.
• W2918454015 cites W2146214940 @default.
• W2918454015 cites W2148080316 @default.
• W2918454015 cites W2148111005 @default.
• W2918454015 cites W2152836766 @default.
• W2918454015 cites W2159154141 @default.
• W2918454015 cites W2159867596 @default.
• W2918454015 cites W2160856744 @default.
• W2918454015 cites W2163431470 @default.
• W2918454015 cites W2165360324 @default.
• W2918454015 cites W2167311298 @default.
• W2918454015 cites W2169288901 @default.
• W2918454015 cites W2217669433 @default.
• W2918454015 cites W2302449379 @default.
• W2918454015 cites W2324972828 @default.
• W2918454015 cites W2325472161 @default.
• W2918454015 cites W2342838054 @default.
• W2918454015 cites W2411650569 @default.
• W2918454015 cites W2411933725 @default.
• W2918454015 cites W2419391682 @default.
• W2918454015 cites W2562172900 @default.
• W2918454015 cites W2584431885 @default.
• W2918454015 cites W2598112000 @default.
• W2918454015 cites W2616105899 @default.
• W2918454015 cites W2625796101 @default.
• W2918454015 cites W2734680224 @default.
• W2918454015 cites W2738867207 @default.
• W2918454015 cites W2741587154 @default.
• W2918454015 cites W2756191472 @default.
• W2918454015 cites W2806364545 @default.
• W2918454015 cites W2885956639 @default.
• W2918454015 cites W2888623455 @default.
• W2918454015 doi "https://doi.org/10.1007/s00415-019-09235-x" @default.
• W2918454015 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30834979" @default.
• W2918454015 hasPublicationYear "2019" @default.
• W2918454015 type Work @default.
• W2918454015 sameAs 2918454015 @default.
• W2918454015 citedByCount "18" @default.

• next