{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:23:11Z","timestamp":1787890991307,"version":"build-2784847793"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T00:00:00Z","timestamp":1705363200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"R\u00edo Hortega Contract","award":["CM21\/00057"],"award-info":[{"award-number":["CM21\/00057"]}]},{"name":"R\u00edo Hortega Contract","award":["CM21\/00101"],"award-info":[{"award-number":["CM21\/00101"]}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Atlantic Fellow for Equity in Brain Health"},{"DOI":"10.13039\/100015442","name":"Global Brain Health Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015442","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000957","name":"Alzheimer\u2019s Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000957","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000320","name":"Alzheimer\u2019s Society","doi-asserted-by":"publisher","award":["ALZ UK-21-720973"],"award-info":[{"award-number":["ALZ UK-21-720973"]}],"id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000320","name":"Alzheimer\u2019s Society","doi-asserted-by":"publisher","award":["AACSF-21-850193"],"award-info":[{"award-number":["AACSF-21-850193"]}],"id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Juan Rod\u00e9s Contract","award":["JR20\/0018"],"award-info":[{"award-number":["JR20\/0018"]}]},{"name":"Juan Rod\u00e9s Contract","award":["PI21\/00791"],"award-info":[{"award-number":["PI21\/00791"]}]},{"name":"Juan Rod\u00e9s Contract","award":["JR19\/00037"],"award-info":[{"award-number":["JR19\/00037"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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%\u201315% 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.<\/jats:p>\n               <jats:p>In this work we describe a large clinicopathological series of MND patients, analysing the frequency of concurrent FTLD changes and trying to define specific subgroups of patients based on their clinical, genetic and pathological characteristics.<\/jats:p>\n               <jats:p>We performed an observational, retrospective, multicentre case study. We included all cases meeting neuropathological criteria for MND from the Neurological Tissue Bank of the FRCB-IDIBAPS-Hospital Cl\u00ednic Barcelona Biobank between 1994 and 2022, regardless of their last clinical diagnosis. While brain donation is encouraged in all patients, it is performed in very few, and representativeness of the cohort might not be precise for all patients with MND. We retrospectively reviewed clinical and neuropathological data and describe the main clinical, genetic and pathogenic features, comparing neuropathologic groups between MND with and without FTLD changes and aiming to define specific subgroups.<\/jats:p>\n               <jats:p>We included brain samples from 124 patients, 44 of whom (35.5%) had FTLD neuropathologic features (i.e. FTLD-MND). Pathologic TDP-43 aggregates were present in 93.6% of the cohort and were more extensive (higher Brettschneider stage) in those with concurrent FTLD (P &amp;lt; 0.001). Motor symptom onset was more frequent in the bulbar region in FTLD-MND cases than in those with isolated MND (P = 0.023), with no differences in survival. We observed a better clinicopathological correlation in the MND group than in the FTLD-MND group (93.8% versus 61.4%; P &amp;lt; 0.001). Pathogenic genetic variants were more common in the FTLD-MND group, especially C9orf72.<\/jats:p>\n               <jats:p>We describe a frequency of FTLD of 35.5% in our series of neuropathologically confirmed cases of MND. The FTLD-MND spectrum is highly heterogeneous in all aspects, especially in patients with FTLD, in whom it is particularly difficult to define specific subgroups. In the absence of definite biomarkers, neuropathology remains a valuable tool for a definite diagnosis, increasing our knowledge in disease nosology.<\/jats:p>","DOI":"10.1093\/brain\/awae011","type":"journal-article","created":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T19:42:50Z","timestamp":1705434170000},"page":"2357-2367","source":"Crossref","is-referenced-by-count":13,"title":["Clinicopathological correlates in the frontotemporal lobar degeneration\u2013motor neuron disease spectrum"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9282-8603","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Carbayo","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergi","family":"Borrego-\u00c9cija","sequence":"additional","affiliation":[{"name":"Alzheimer\u2019s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic, Institut d\u2019Investigacions Biomediques August Pi i Sunyer, University of Barcelona , Barcelona 08036 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina","family":"Turon-Sans","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Cort\u00e9s-Vicente","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Molina-Porcel","sequence":"additional","affiliation":[{"name":"Alzheimer\u2019s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic, Institut d\u2019Investigacions Biomediques August Pi i Sunyer, University of Barcelona , Barcelona 08036 , Spain"},{"name":"Neurological Tissue Bank, Biobanc-Hospital Cl\u00ednic-FRCB-IDIBAPS , Barcelona 08036 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Gasc\u00f3n-Bayarri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Bellvitge University Hospital, L\u2019Hospitalet de Llobregat , Barcelona 08907 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel \u00c1ngel","family":"Rubio","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital del Mar , Barcelona 08003 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Povedano","sequence":"additional","affiliation":[{"name":"Department of Neurology, Motor Neuron Unit, Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL), Bellvitge University Hospital, Hospitalet de Llobregat , Barcelona 08907 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3127-7486","authenticated-orcid":false,"given":"Josep","family":"G\u00e1mez","sequence":"additional","affiliation":[{"name":"GMA Clinic, Neurology Department, European Reference Network On Rare Neuromuscular Diseases (ERN EURO-NMD) , Barcelona 08029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Sotoca","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona , Barcelona, 08035 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"Juntas-Morales","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona , Barcelona, 08035 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Almendrote","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Germans Trias i Pujol , Badalona 08916 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0660-0950","authenticated-orcid":false,"given":"Marta","family":"Marqui\u00e9","sequence":"additional","affiliation":[{"name":"Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya (UIC) , Barcelona 08028 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7750-896X","authenticated-orcid":false,"given":"Raquel","family":"S\u00e1nchez-Valle","sequence":"additional","affiliation":[{"name":"Alzheimer\u2019s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Cl\u00ednic, Institut d\u2019Investigacions Biomediques August Pi i Sunyer, University of Barcelona , Barcelona 08036 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5418-2052","authenticated-orcid":false,"given":"Ignacio","family":"Ill\u00e1n-Gala","sequence":"additional","affiliation":[{"name":"Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau , Barcelona 08025 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED) , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oriol","family":"Dols-Icardo","sequence":"additional","affiliation":[{"name":"Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau , Barcelona 08025 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED) , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Rubio-Guerra","sequence":"additional","affiliation":[{"name":"Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau , Barcelona 08025 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas (CIBERNED) , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bernal","sequence":"additional","affiliation":[{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"},{"name":"Genetics Department, Hospital de la Santa Creu i Sant Pau , Barcelona 08025 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Caballero-\u00c1vila","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1919-9382","authenticated-orcid":false,"given":"Ana","family":"Vesperinas","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Gelpi","sequence":"additional","affiliation":[{"name":"Neurological Tissue Bank, Biobanc-Hospital Cl\u00ednic-FRCB-IDIBAPS , Barcelona 08036 , Spain"},{"name":"Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna , Vienna 1090 , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricard","family":"Rojas-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau , Barcelona 08025 , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08025 , Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,16]]},"reference":[{"key":"2024070507214439000_awae011-B1","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1016\/S0140-6736(17)31287-4","article-title":"Amyotrophic lateral sclerosis","volume":"390","author":"van Es","year":"2017","journal-title":"Lancet"},{"key":"2024070507214439000_awae011-B2","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1136\/jnnp-2011-300188","article-title":"The syndrome of cognitive impairment in amyotrophic lateral sclerosis: A population-based study","volume":"83","author":"Phukan","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024070507214439000_awae011-B3","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1212\/WNL.0b013e318214359f","article-title":"Executive dysfunction is a negative prognostic indicator in patients with ALS without 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