Matches in SemOpenAlex for { <https://semopenalex.org/work/W4285010066> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W4285010066 abstract "Background Diagnosis of Amyotrophic Lateral Sclerosis (ALS) is challenging as initial presentations are various and diagnostic biomarkers are lacking. The diagnosis relies on the presence of both upper and lower motor neuron signs and thorough exclusion of differential diagnoses, particularly as receiving an ALS diagnosis has major implications for the patient. Sjögren's syndrome may mimic peripheral ALS phenotypes and should be considered in the work-up. Case A 72-year-old female presented with a mono-neuropathy of the right leg and a complaint of dry eyes and mouth. Initial diagnostic work-up confirmed a regional sensorimotor neuropathy and a Sjögren's syndrome; a causal relationship was assumed. However, motor symptoms spread progressively despite immunosuppressive treatment, eventually including both legs, both arms and the diaphragm. Clinically, unequivocal central signs were lacking, but further along in the disease course, the atrophy pattern followed a split phenotype and deep tendon reflexes were preserved. Nerve biopsy did not show vasculitic infiltration; however, serum neurofilament light chain (sNfL) concentrations were and remained persistently highly elevated despite immunosuppressive treatment. Electrodiagnostic re-evaluation confirmed denervation in 3 regions. A diagnosis of familial ALS was finally confirmed by a C9 orf 72 repeat expansion. Stationary sensory symptoms were best explained by a neuropathy associated with concomitant Sjögren's syndrome Discussion Our instructive case shows the difficulties of diagnosing ALS in the setting of a peripheral symptom onset and a concurrent but unrelated condition also causing neuropathy. Such cases require high clinical vigilance and readiness to reappraise diagnostic findings if the disease course deviates from expectation. Recently proposed simplified diagnostic criteria, genetic testing and body fluid biomarkers such as sNfL may facilitate the diagnostic process and lead to an earlier diagnosis of ALS." @default.
- W4285010066 created "2022-07-12" @default.
- W4285010066 creator A5027477006 @default.
- W4285010066 creator A5045590592 @default.
- W4285010066 creator A5061230192 @default.
- W4285010066 date "2022-07-11" @default.
- W4285010066 modified "2023-09-26" @default.
- W4285010066 title "Case Report: A 72-Year-Old Woman With Progressive Motor Weakness, Dry Eyes and High Levels of Serum Neurofilament Light Chain" @default.
- W4285010066 cites W1480524493 @default.
- W4285010066 cites W2025121466 @default.
- W4285010066 cites W2147546090 @default.
- W4285010066 cites W2161938104 @default.
- W4285010066 cites W2167295920 @default.
- W4285010066 cites W2170672384 @default.
- W4285010066 cites W2171493441 @default.
- W4285010066 cites W2413900910 @default.
- W4285010066 cites W2509849114 @default.
- W4285010066 cites W2522741011 @default.
- W4285010066 cites W2612214304 @default.
- W4285010066 cites W2735438407 @default.
- W4285010066 cites W2737506685 @default.
- W4285010066 cites W2889223700 @default.
- W4285010066 cites W2915925525 @default.
- W4285010066 cites W2960265880 @default.
- W4285010066 cites W2968223448 @default.
- W4285010066 cites W3005485264 @default.
- W4285010066 cites W3015372504 @default.
- W4285010066 cites W3022289262 @default.
- W4285010066 cites W3042339499 @default.
- W4285010066 cites W3043054105 @default.
- W4285010066 cites W3206132835 @default.
- W4285010066 cites W3209134601 @default.
- W4285010066 cites W4210998205 @default.
- W4285010066 cites W4213333572 @default.
- W4285010066 doi "https://doi.org/10.3389/fneur.2022.889894" @default.
- W4285010066 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35899270" @default.
- W4285010066 hasPublicationYear "2022" @default.
- W4285010066 type Work @default.
- W4285010066 citedByCount "0" @default.
- W4285010066 crossrefType "journal-article" @default.
- W4285010066 hasAuthorship W4285010066A5027477006 @default.
- W4285010066 hasAuthorship W4285010066A5045590592 @default.
- W4285010066 hasAuthorship W4285010066A5061230192 @default.
- W4285010066 hasBestOaLocation W42850100661 @default.
- W4285010066 hasConcept C118552586 @default.
- W4285010066 hasConcept C134018914 @default.
- W4285010066 hasConcept C141071460 @default.
- W4285010066 hasConcept C142724271 @default.
- W4285010066 hasConcept C187212893 @default.
- W4285010066 hasConcept C21715850 @default.
- W4285010066 hasConcept C2779134260 @default.
- W4285010066 hasConcept C2779384505 @default.
- W4285010066 hasConcept C2779901536 @default.
- W4285010066 hasConcept C2780052305 @default.
- W4285010066 hasConcept C2780247198 @default.
- W4285010066 hasConcept C2780596555 @default.
- W4285010066 hasConcept C2780801072 @default.
- W4285010066 hasConcept C2781172350 @default.
- W4285010066 hasConcept C522805319 @default.
- W4285010066 hasConcept C555293320 @default.
- W4285010066 hasConcept C71924100 @default.
- W4285010066 hasConceptScore W4285010066C118552586 @default.
- W4285010066 hasConceptScore W4285010066C134018914 @default.
- W4285010066 hasConceptScore W4285010066C141071460 @default.
- W4285010066 hasConceptScore W4285010066C142724271 @default.
- W4285010066 hasConceptScore W4285010066C187212893 @default.
- W4285010066 hasConceptScore W4285010066C21715850 @default.
- W4285010066 hasConceptScore W4285010066C2779134260 @default.
- W4285010066 hasConceptScore W4285010066C2779384505 @default.
- W4285010066 hasConceptScore W4285010066C2779901536 @default.
- W4285010066 hasConceptScore W4285010066C2780052305 @default.
- W4285010066 hasConceptScore W4285010066C2780247198 @default.
- W4285010066 hasConceptScore W4285010066C2780596555 @default.
- W4285010066 hasConceptScore W4285010066C2780801072 @default.
- W4285010066 hasConceptScore W4285010066C2781172350 @default.
- W4285010066 hasConceptScore W4285010066C522805319 @default.
- W4285010066 hasConceptScore W4285010066C555293320 @default.
- W4285010066 hasConceptScore W4285010066C71924100 @default.
- W4285010066 hasLocation W42850100661 @default.
- W4285010066 hasLocation W42850100662 @default.
- W4285010066 hasLocation W42850100663 @default.
- W4285010066 hasOpenAccess W4285010066 @default.
- W4285010066 hasPrimaryLocation W42850100661 @default.
- W4285010066 hasRelatedWork W1987378723 @default.
- W4285010066 hasRelatedWork W2135494549 @default.
- W4285010066 hasRelatedWork W236668811 @default.
- W4285010066 hasRelatedWork W2518413541 @default.
- W4285010066 hasRelatedWork W2901063194 @default.
- W4285010066 hasRelatedWork W2909479067 @default.
- W4285010066 hasRelatedWork W3127496527 @default.
- W4285010066 hasRelatedWork W3135816387 @default.
- W4285010066 hasRelatedWork W4312817963 @default.
- W4285010066 hasRelatedWork W48548235 @default.
- W4285010066 hasVolume "13" @default.
- W4285010066 isParatext "false" @default.
- W4285010066 isRetracted "false" @default.
- W4285010066 workType "article" @default.