Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers

References

• Rosenbohm A, Peter RS, Erhardt S, Lule D, Rothenbacher D, Ludolph AC, et al. Epidemiology of amyotrophic lateral sclerosis in Southern Germany. J Neurol. 2017;264:749–57.
   PubMed Web of Science ®Google Scholar
• DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
   PubMed Web of Science ®Google Scholar
• Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
   PubMed Web of Science ®Google Scholar
• Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Jonsson P, Birve A, et al. Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. Hum Mol Genet. 2015;24:3133–42.
   PubMed Web of Science ®Google Scholar
• Zou ZY, Zhou ZR, Che CH, Liu CY, He RL, Huang HP. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88:540–9.
   PubMed Web of Science ®Google Scholar
• Perrone B, Conforti FL. Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes? Expert Rev Mol Diagn. 2020;20:703–14.
   PubMed Web of Science ®Google Scholar
• Daria T, Muller K, Oidovdorj G, Baatar K, Boldbaatar P, Sarangerel J, et al. Genotypes of amyotrophic lateral sclerosis in Mongolia. J Neurol Neurosurg Psychiatry. 2019;90:1300–2.
   PubMed Web of Science ®Google Scholar
• Huai J, Zhang Z. Structural properties and interaction partners of familial ALS-associated SOD1 mutants. Front Neurol. 2019;10:527.
   PubMed Web of Science ®Google Scholar
• Ekhtiari Bidhendi E, Bergh J, Zetterstrom P, Forsberg K, Pakkenberg B, Andersen PM, et al. Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis. Acta Neuropathol. 2018;136:939–53.
   PubMed Web of Science ®Google Scholar
• Hardiman O. Major advances in amyotrophic lateral sclerosis in 2020. Lancet Neurol. 2021;20:14–5.
   PubMed Web of Science ®Google Scholar
• Crooke ST. Progress in antisense technology. Annu Rev Med. 2004;55:61–95.
   PubMed Web of Science ®Google Scholar
• Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, et al. Phase 1–2 trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med. 2020;383:109–19.
   PubMed Web of Science ®Google Scholar
• Muller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, et al. Comprehensive analysis of the mutation spectrum in 301 German ALS families. J Neurol Neurosurg Psychiatry. 2018;89:817–27.
   PubMed Web of Science ®Google Scholar
• Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
   PubMed Web of Science ®Google Scholar
• Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force. Eur J Neurol. 2012;19:360–75.
   PubMed Web of Science ®Google Scholar
• Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, et al. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet. 2014;51:419–24.
   PubMed Web of Science ®Google Scholar
• Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry. 2010;81:572–7.
   PubMed Web of Science ®Google Scholar
• Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet. 1995;10:61–6.
   PubMed Web of Science ®Google Scholar
• Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
   PubMed Web of Science ®Google Scholar
• Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, et al. Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis. Neurol Genet. 2022;8:e654.
   PubMed Web of Science ®Google Scholar
• Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, et al. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscul Disord. 1995;5:353–7.
   PubMed Web of Science ®Google Scholar
• Suzuki N, Nishiyama A, Warita H, Aoki M. Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy. J Hum Genet. 2022. Epub ahead of print.
   Web of Science ®Google Scholar
• Murphy NA, Arthur KC, Tienari PJ, Houlden H, Chio A, Traynor BJ. Age-related penetrance of the C9orf72 repeat expansion. Sci Rep. 2017;7:2116.
   PubMed Web of Science ®Google Scholar
• Feneberg E, Turner MR, Ansorge O, Talbot K. Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology. Neurology. 2020;95:595–6.
   PubMed Web of Science ®Google Scholar
• Dalla Bella E, Rigamonti A, Mantero V, Morbin M, Saccucci S, Gellera C, et al. Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2014;85:1009–11.
   PubMed Web of Science ®Google Scholar
• Luigetti M, Conte A, Madia F, Marangi G, Zollino M, Mancuso I, et al. Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. Neurol Sci. 2009;30:517–20.
   PubMed Web of Science ®Google Scholar
• Gagliardi D, Ahmadinejad M, Del Bo R, Meneri M, Comi GP, Corti S, et al. Homozygous SOD1 variation L144S produces a severe form of amyotrophic lateral sclerosis in an Iranian family. Neurol Genet. 2022;8:e645.
   PubMed Web of Science ®Google Scholar
• Chadi G, Maximino JR, Jorge FMH, Borba FC, Gilio JM, Callegaro D, et al. Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center. Amyotroph Lateral Scler Frontotemporal Degener. 2017;18:249–55.
   PubMed Web of Science ®Google Scholar
• Kuźma-Kozakiewicz M, Andersen PM, Elahi E, Alavi A, Sapp PC, Morita M, et al. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2021;22:80–5.
   PubMed Web of Science ®Google Scholar
• Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, et al. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology. 1999;53:1064–71.
   PubMed Web of Science ®Google Scholar