Hardiman O, Al-Chalabi A, Chio A et al (2017) Amyotrophic lateral sclerosis. Nat Rev Dis Prim 3:17071

Article  PubMed  Google Scholar 

Akçimen F, Lopez ER, Landers JE et al (2023) Amyotrophic lateral sclerosis: translating genetic discoveries into therapies. Nat Rev Genet 24:642–658. https://doi.org/10.1038/s41576-023-00592-y

Article  CAS  PubMed  Google Scholar 

Su XW, Broach JR, Connor JR et al (2014) Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research. Muscle Nerve 49:786–803. https://doi.org/10.1002/mus.24198

Article  CAS  PubMed  Google Scholar 

Majounie E, Renton AE, Mok K et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol 11:323–330. https://doi.org/10.1016/S1474-4422(12)70043-1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dejesus-hernandez M, Mackenzie IR, Boeve BF et al (2012) Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis Mariely. Neuron 72:245–256. https://doi.org/10.1016/j.neuron.2011.09.011.Expanded

Article  Google Scholar 

Murphy NA, Arthur KC, Tienari PJ et al (2017) Age-related penetrance of the C9orf72 repeat expansion. Sci Rep 7:1–7. https://doi.org/10.1038/s41598-017-02364-1

Article  CAS  Google Scholar 

Pensato V, Magri S, Bella ED et al (2020) Sorting rare ALS genetic variants by targeted re-sequencing panel in italian patients: OPTN, VCP, and SQSTM1 variants account for 3% of rare genetic forms. J Clin Med 9:1–18. https://doi.org/10.3390/jcm9020412

Article  CAS  Google Scholar 

Mesaros M, Lenz S, Lim W et al (2022) Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry. Genes (Basel). https://doi.org/10.3390/genes13010076

Article  Google Scholar 

Laaksovirta H, Launes J, Jansson L et al (2022) ALS in Finland: major genetic variants and clinical characteristics of patients with and without the C9orf72 hexanucleotide repeat expansion. Neurol Genet. https://doi.org/10.1212/NXG.0000000000000665

Article  PubMed  PubMed Central  Google Scholar 

Orrù S, Manolakos E, Orrù N et al (2012) High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin Genet 81:172–178. https://doi.org/10.1111/j.1399-0004.2011.01668.x

Article  CAS  PubMed  Google Scholar 

Zlotogora J, van Baal S, Patrinos GP (2009) The Israeli National Genetic Database. IMAJ 11:373–375

PubMed  Google Scholar 

Goldstein O, Gana-Weisz M, Nefussy B et al (2018) High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype. Neurobiol Aging 64:160.e1-160.e7. https://doi.org/10.1016/j.neurobiolaging.2017.12.015

Article  CAS  PubMed  Google Scholar 

Bourinaris T, Houlden H (2018) C9orf72 and its relevance in parkinsonism and movement disorders: a comprehensive review of the literature. Mov Disord Clin Pract 5:575–585. https://doi.org/10.1002/mdc3.12677

Article  PubMed  PubMed Central  Google Scholar 

González-Pérez P, Cirulli ET, Drory VE et al (2012) Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 79:2201–2208. https://doi.org/10.1212/WNL.0b013e318275963b

Article  CAS  PubMed  PubMed Central  Google Scholar 

Goldstein O, Nayshool O, Nefussy B et al (2016) OPTN 691–692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology 86:446–453. https://doi.org/10.1212/WNL.0000000000002334

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Daele SH, Moisse M, van Vugt JJFA et al (2023) Genetic variability in sporadic amyotrophic lateral sclerosis. Brain 146:3760–3769. https://doi.org/10.1093/brain/awad120

Article  PubMed  PubMed Central  Google Scholar 

Maruyama H, Morino H, Ito H et al (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465:223–226. https://doi.org/10.1038/nature08971

Article  CAS  PubMed  Google Scholar 

Miller TM, Cudkowicz ME, Genge A et al (2022) Trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med 387:1099–1110. https://doi.org/10.1056/nejmoa2204705

Article  CAS  PubMed  Google Scholar 

Corrado L, D’Alfonso S, Bergamaschi L et al (2006) SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). Neuromuscul Disord 16:800–804. https://doi.org/10.1016/j.nmd.2006.07.004

Article  CAS  PubMed  Google Scholar 

Gellera C, Castellotti B, Riggio MC et al (2001) Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations. Neuromuscul Disord 11:404–410. https://doi.org/10.1016/S0960-8966(00)00215-7

Article  CAS  PubMed  Google Scholar 

Fujisawa T, Homma K, Yamaguchi N et al (2012) A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. Ann Neurol 72:739–749. https://doi.org/10.1002/ana.23668

Article  CAS  PubMed  Google Scholar 

Vucic S, Rothstein JD, Kiernan MC (2014) Advances in treating amyotrophic lateral sclerosis: Insights from pathophysiological studies. Trends Neurosci 37:433–442. https://doi.org/10.1016/j.tins.2014.05.006

Article  CAS  PubMed  Google Scholar 

Suzuki N, Nishiyama A, Warita H, Aoki M (2023) Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy. J Hum Genet 68:131–152. https://doi.org/10.1038/s10038-022-01055-8

Article  CAS  PubMed  Google Scholar 

Dolzhenko E, Deshpande V, Schlesinger F et al (2019) ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions. Bioinformatics 35:4754–4756. https://doi.org/10.1093/bioinformatics/btz431

Article  CAS  PubMed  PubMed Central  Google Scholar