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000273943 0247_ $$2ISSN$$a1432-1459
000273943 037__ $$aDZNE-2024-01417
000273943 041__ $$aEnglish
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000273943 1001_ $$00000-0002-2629-2748$$ade Boer, Eva M J$$b0
000273943 245__ $$aDiagnosing primary lateral sclerosis: a clinico-pathological study.
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000273943 520__ $$aPrimary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.This study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results. These discrepancies prompted us to perform a clinico-pathology study focussing on diagnostic challenges and accuracy in PLS. To this end, all cases were reviewed by an international panel of 11 experts using an e-module and structured questionnaires.Autopsy exhibited neuropathological findings consistent with amyotrophic lateral sclerosis (ALS) in one case, while two cases exhibited similar, but more limited lower motor neuron involvement, hinting at PLS or ALS overlap. Another case displayed tau-pathology indicative of progressive supranuclear palsy. The final case displayed extensive myelin loss without a proteinopathy or a clear diagnosis. The expert panel identified 24 different ancillary investigations lacking across cases (e.g. genetic testing, DAT scans, neuropsychological evaluation), listed 28 differential diagnoses, and identified 13 different conditions as the most likely diagnosis. Autopsy results led panel members to change their final diagnosis in 42% of the cases.This study underscores the diagnostic challenges posed by diverse underlying pathologies resulting in upper motor neuron phenotypes. Despite adhering to the same diagnostic criteria, consensus amongst experts was limited. Ensuring the diagnostic consistency is crucial for advancing understanding and treatment of PLS. Explicit guidelines for excluding potential mimics along with a neuropathological gold standard are imperative.
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000273943 650_7 $$2Other$$aAmyotrophic lateral sclerosis
000273943 650_7 $$2Other$$aNeuropathology
000273943 650_7 $$2Other$$aPrimary lateral sclerosis
000273943 650_7 $$2Other$$aTDP-43
000273943 650_7 $$2Other$$aTau
000273943 650_7 $$2NLM Chemicals$$aTARDBP protein, human
000273943 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000273943 650_2 $$2MeSH$$aHumans
000273943 650_2 $$2MeSH$$aMale
000273943 650_2 $$2MeSH$$aAged
000273943 650_2 $$2MeSH$$aFemale
000273943 650_2 $$2MeSH$$aMiddle Aged
000273943 650_2 $$2MeSH$$aMotor Neuron Disease: diagnosis
000273943 650_2 $$2MeSH$$aMotor Neuron Disease: pathology
000273943 650_2 $$2MeSH$$aAutopsy
000273943 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: diagnosis
000273943 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: pathology
000273943 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000273943 650_2 $$2MeSH$$aDiagnosis, Differential
000273943 650_2 $$2MeSH$$aAged, 80 and over
000273943 650_2 $$2MeSH$$aBrain: pathology
000273943 650_2 $$2MeSH$$aBrain: diagnostic imaging
000273943 650_2 $$2MeSH$$aDNA-Binding Proteins
000273943 7001_ $$00000-0001-9102-7353$$ade Vries, Bálint S$$b1
000273943 7001_ $$aVan Hecke, Wim$$b2
000273943 7001_ $$aMühlebner, Angelika$$b3
000273943 7001_ $$aVincken, Koen L$$b4
000273943 7001_ $$aMol, Christian P$$b5
000273943 7001_ $$avan Rheenen, Wouter$$b6
000273943 7001_ $$aWesteneng, Henk-Jan$$b7
000273943 7001_ $$00000-0001-5572-9657$$aVeldink, Jan H$$b8
000273943 7001_ $$0P:(DE-2719)2811373$$aHöglinger, Günter U$$b9
000273943 7001_ $$00000-0002-5473-3774$$aMorris, Huw R$$b10
000273943 7001_ $$00000-0002-3485-3445$$aLitvan, Irene$$b11
000273943 7001_ $$aRaaphorst, Joost$$b12
000273943 7001_ $$aTicozzi, Nicola$$b13
000273943 7001_ $$00000-0002-1625-8845$$aCorcia, Philippe$$b14
000273943 7001_ $$00000-0002-9758-5062$$aVandenberghe, Wim$$b15
000273943 7001_ $$aPijnenburg, Yolande A L$$b16
000273943 7001_ $$00000-0003-1989-7527$$aSeelaar, Harro$$b17
000273943 7001_ $$00000-0001-5327-7204$$aIngre, Caroline$$b18
000273943 7001_ $$00000-0002-4010-2357$$aVan Damme, Philip$$b19
000273943 7001_ $$00000-0002-5203-9674$$avan den Berg, Leonard H$$b20
000273943 7001_ $$00000-0003-4412-1616$$avan de Warrenburg, Bart P C$$b21
000273943 7001_ $$00000-0002-7709-5883$$avan Es, Michael A$$b22
000273943 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-024-12816-0$$gVol. 272, no. 1, p. 46$$n1$$p46$$tJournal of neurology$$v272$$x0367-004X$$y2025
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