717f1dca87a500c752545f01222c52f1 awae011.pdf 5d9b6ab2f325a466c3c428e8b6772d1104291961 awae011.pdf 0618e1e6536db1147f3e24fc95237940630a6fa7c87aa902ee056fc08316c365 awae011.pdf Title: Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum Subject: DOI: 10.1093/brain/awae011; Brain, 147, 7, 2024-01-16.; Abstract: Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It is highly heterogeneous in its presentation and features. Up to 50% of patients with MND develop cognitive-behavioural symptoms during the course of the disease, meeting criteria for FTD in 10%–15% of cases. In the absence of a precise biomarker, neuropathology is still a valuable tool to understand disease nosology, reach a definite diagnostic confirmation and help define specific subgroups of patients with common phenotypic, genetic and biomarker profiles. However, few neuropathological series have been published, and the frequency of frontotemporal lobar degeneration (FTLD) in MND is difficult to estimate.In this work we describe a large clinicopathological series of MND patients, analysing the frequency of concurrent FTLD changes and tr Keywords: amyotrophic lateral sclerosis; motor neuron disease; frontotemporal dementia; neuropathology Author: Álvaro Carbayo Creator: Servigistics Arbortext Advanced Print Publisher 11.1.4546/W-x64 Producer: PDFlib+PDI 9.0.7p3 (C++/Win64) CreationDate: Wed Jul 3 10:51:29 2024 CEST ModDate: Thu Jul 4 13:06:58 2024 CEST Custom Metadata: yes Metadata Stream: yes Tagged: yes UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 11 Encrypted: no Page size: 612.283 x 790.866 pts Page rot: 0 File size: 656681 bytes Optimized: yes PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- VCTHIE+CaeciliaLTStd-Bold Type 1C Custom yes yes yes 1112 0 WJTUPW+CaeciliaLTStd-Roman Type 1C Custom yes yes yes 1115 0 DHPXXC+CaeciliaLTStd-Italic Type 1C Custom yes yes yes 1118 0 VGCHHS+STIXGeneral-Regular Type 1C Custom yes yes yes 1121 0 MHGTWP+CaeciliaLTStd-Heavy Type 1C Custom yes yes yes 88 0 PGUZJK+TimesNewRomanPSMT CID TrueType Identity-H yes yes yes 117 0 XBNDYX+CaeciliaLTStd-BoldItalic Type 1C Custom yes yes yes 122 0 CKTFBT+STIXGeneral-Bold Type 1C Custom yes yes yes 126 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-10-01 02:43:05 CEST RepresentationInformation: awae011.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2024-09-30 18:26:36 CEST Size: 656681 Format: PDF Version: 1.6 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: Linearized PDF, Tagged PDF PDFMetadata: Objects: 0 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: true NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: OneColumn PageMode: UseOutlines Language: en Outlines: Item: Title: Clinicopathological correlates in thefrontotemporal lobar degeneration motorneuron disease spectrum Children: Item: Title: Introduction Destination: secawae011-s0 Item: Title: Materials and methods Destination: secawae011-s1 Children: Item: Title: Case selection Destination: secawae011-s1.1 Item: Title: Neuropathological work-up Destination: secawae011-s1.2 Item: Title: Clinical classification Destination: secawae011-s1.3 Item: Title: Genetic analysis Destination: secawae011-s1.4 Item: Title: Statistical analysis Destination: secawae011-s1.5 Item: Title: Ethics Destination: secawae011-s1.6 Item: Title: Results Destination: secawae011-s2 Children: Item: Title: Study cohort description and patient selection Destination: secawae011-s2.1 Item: Title: Neuropathology Destination: secawae011-s2.2 Children: Item: Title: Clinical characteristics according to the neuropathologic groups: MND versus FTLD-MND Destination: secawae011-s2.2.1 Children: Item: Title: Motor symptoms Destination: secawae011-s2.2.1.1 Item: Title: Cognitive and behavioural symptoms Destination: secawae011-s2.2.1.2 Item: Title: Clinicopathological diagnostic correlation Destination: secawae011-s2.2.1.3 Item: Title: Survival analysis Destination: secawae011-s2.2.1.4 Item: Title: Genetics Destination: secawae011-s2.2.1.5 Item: Title: Family history Destination: secawae011-s2.2.1.6 Item: Title: Discussion Destination: secawae011-s3 Item: Title: Data availability Destination: secawae011-s4 Item: Title: Acknowledgements Destination: acknow Item: Title: Funding Destination: secawae011-s5 Item: Title: Competing interests Destination: secawae011-s6 Item: Title: Supplementary material Destination: secawae011-s7 Item: Title: References Destination: 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Registry: Identity Supplement: 0 FontDescriptor: FontName: PGUZJK+TimesNewRomanPSMT Flags: Nonsymbolic FontBBox: -568, -307, 2046, 1040 FontFile2: true XMP: uuid:96c8d7c0-74df-4479-9005-7b43f7615af9 uuid:6313E9F2-2A26-71DB-7B04-FF0E48E0D7BE True amyotrophic lateral sclerosis; motor neuron disease; frontotemporal dementia; neuropathology PDFlib+PDI 9.0.7p3 (C++/Win64) application/pdf 10.1093/brain/awae011 en Oxford University Press Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum Álvaro Carbayo Sergi Borrego-Écija Janina Turon-Sans Elena Cortés-Vicente Laura Molina-Porcel Jordi Gascón-Bayarri Miguel Ángel Rubio Mónica Povedano Josep Gámez Javier Sotoca Raúl Juntas-Morales Miriam Almendrote Marta Marquié Raquel Sánchez-Valle Ignacio Illán-Gala Oriol Dols-Icardo Sara Rubio-Guerra Sara Bernal Marta Caballero-Ávila Ana Vesperinas Ellen Gelpi Ricard Rojas-García DOI: 10.1093/brain/awae011; Brain, 147, 7, 2024-01-16.; Abstract: Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It is highly heterogeneous in its presentation and features. Up to 50% of patients with MND develop cognitive-behavioural symptoms during the course of the disease, meeting criteria for FTD in 10%–15% of cases. In the absence of a precise biomarker, neuropathology is still a valuable tool to understand disease nosology, reach a definite diagnostic confirmation and help define specific subgroups of patients with common phenotypic, genetic and biomarker profiles. However, few neuropathological series have been published, and the frequency of frontotemporal lobar degeneration (FTLD) in MND is difficult to estimate.In this work we describe a large clinicopathological series of MND patients, analysing the frequency of concurrent FTLD changes and tr © The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain. amyotrophic lateral sclerosis motor neuron disease frontotemporal dementia neuropathology Journal Brain © The Author(s) 2024. 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