Phukan J, Elamin M, Bede P, Jordan N, Gallagher L, Byrne S, Lynch C, Pender N, Hardiman O (2012) The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 83(1):102–108. https://doi.org/10.1136/jnnp-2011-300188

Article  PubMed  Google Scholar 

Montuschi A, Iazzolino B, Calvo A, Moglia C, Lopiano L, Restagno G, Brunetti M, Ossola I, Lo Presti A, Cammarosano S, Canosa A, Chiò A (2015) Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy. J Neurol Neurosurg Psychiatry 86(2):168–173. https://doi.org/10.1136/jnnp-2013-307223

Article  PubMed  Google Scholar 

Nguyen HP, Van Broeckhoven C, van der Zee J (2018) ALS genes in the genomic era and their implications for FTD. Trends Genet 34(6):404–423. https://doi.org/10.1016/j.tig.2018.03.001

Article  CAS  PubMed  Google Scholar 

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Sci Transl Med 9(388):eaad9157. https://doi.org/10.1126/scitranslmed.aad9157

Article  PubMed  PubMed Central  Google Scholar 

Wang J, Guo C, Liu S, Qi H, Yin Y, Liang R, Sun MZ, Greenaway FT (2014) Annexin A11 in disease. Clin Chim Acta 431:164–168. https://doi.org/10.1016/j.cca.2014.01.031

Article  CAS  PubMed  Google Scholar 

Zhang K, Liu Q, Liu K, Shen D, Tai H, Shu S, Ding Q, Fu H, Liu S, Wang Z, Li X, Liu M, Zhang X, Cui L (2018) ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia. Neurol Genet 4(3):e237. https://doi.org/10.1212/NXG.0000000000000237

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wei Q, Chen X, Chen Y, Ou R, Cao B, Hou Y, Zhang L, Shang HF (2019) Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. Sci China Life Sci 62(4):517–525. https://doi.org/10.1007/s11427-018-9453-x

Article  PubMed  Google Scholar 

Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, Meininger V, Le Forestier N, Salachas F, Couratier P, Camu W, Seilhean D, Millecamps S (2021) Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis. Neurobiol Aging 99:102.e11-102.e20. https://doi.org/10.1016/j.neurobiolaging.2020.10.015

Article  CAS  PubMed  Google Scholar 

Nagy ZF, Pál M, Salamon A, Kafui Esi Zodanu G, Füstös D, Klivényi P, Széll M (2022) Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiol Aging 116:1–11. https://doi.org/10.1016/j.neurobiolaging.2022.04.002

Article  CAS  PubMed  Google Scholar 

Nan H, Kim YJ, Chu M, Li D, Li J, Jiang D, Wu Y, Ohtsuka T, Wu L (2024) Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations. Alzheimers Res Ther 16(1):127. https://doi.org/10.1186/s13195-024-01493-w

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chiò A, Mora G, Moglia C et al (2017) Secular trends of amyotrophic lateral sclerosis: the Piemonte and Valle d’Aosta register. JAMA Neurol 74(9):1097–1104. https://doi.org/10.1001/jamaneurol.2017.1387

Article  PubMed  PubMed Central  Google Scholar 

Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A, Grosskreutz J, Hardiman O, Henderson R, Matamala JM, Mitsumoto H, Paulus W, Simon N, Swash M, Talbot K, Turner MR, Ugawa Y, van den Berg LH, Verdugo R, Vucic S, Kaji R, Burke D, Kiernan MC (2020) A proposal for new diagnostic criteria for ALS. Clin Neurophysiol 131(8):1975–1978. https://doi.org/10.1016/j.clinph.2020.04.005

Article  PubMed  Google Scholar 

Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134(Pt 9):2456–2477. https://doi.org/10.1093/brain/awr179

Article  PubMed  PubMed Central  Google Scholar 

Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobáGyi T, Rosenfeld J, Silani V, Ince PG, Turner MR (2017) Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener 18(3–4):153–174. https://doi.org/10.1080/21678421.2016.1267768

Article  PubMed  PubMed Central  Google Scholar 

Kortte KB, Horner MD, Windham WK (2002) The trail making test, part B: cognitive flexibility or ability to maintain set? Appl Neuropsychol 9:106–109

PubMed  Google Scholar 

Beeldman E, Raaphorst J, Klein Twennaar M, de Visser M, Schmand BA, de Haan RJ (2016) The cognitive profile of ALS: a systematic review and meta-analysis update. J Neurol Neurosurg Psychiatry 8:611–619

Google Scholar 

Beeldman E, Raaphorst J, Klein Twennaar M et al (2018) The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 89:995–1002

PubMed  Google Scholar 

Grassano M, Calvo A, Moglia C, Brunetti M, Barberis M, Sbaiz L, Canosa A, Manera U, Vasta R, Corrado L, D’Alfonso S, Mazzini L, Scholz SW, Dalgard C, Ding J, Gibbs RJ, Chia R, Traynor BJ, Chiò A, American Genomic Center (2021) Mutational analysis of known ALS genes in an Italian population-based cohort. Neurology 96(4):e600–e609. https://doi.org/10.1212/WNL.0000000000011209

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. https://doi.org/10.1016/j.neuron.2011.09.010

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grassano M, Calvo A, Moglia C, Sbaiz L, Brunetti M, Barberis M, Casale F, Manera U, Vasta R, Canosa A, D’Alfonso S, Corrado L, Mazzini L, Dalgard C, Karra R, Chia R, Traynor B, Chiò A (2022) Systematic evaluation of genetic mutations in ALS: a population-based study. J Neurol Neurosurg Psychiatry 93(11):1190–1193. https://doi.org/10.1136/jnnp-2022-328931

Article  PubMed  Google Scholar 

Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM (2022) Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis. Neurol Genet 8(1):e654. https://doi.org/10.1212/NXG.0000000000000654

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shen D, Yang X, He D, Zhang K, Liu S, Sun X, Li J, Cai Z, Liu M, Zhang X, Liu Q, Cui L (2024) Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study. J Neurol 271(8):5541–5548. https://doi.org/10.1007/s00415-024-12513-y

Article  CAS  PubMed  Google Scholar 

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH, German ALS network MND-NET (2018) Comprehensive analysis of the mutation spectrum in 301 German ALS families. J Neurol Neurosurg Psychiatry 89(8):817–827. https://doi.org/10.1136/jnnp-2017-317611

Article  PubMed  Google Scholar