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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 25, 2024 - Issue 1-2
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Brief Report

Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis

Silvia Peverelli1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-3226-1112View further author information
ORCID Icon,
Alberto Brusati2 Department of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyORCID Iconhttps://orcid.org/0000-0003-0686-8030View further author information
ORCID Icon,
Valeria Casiraghi3 Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy, andORCID Iconhttps://orcid.org/0000-0002-8675-2574View further author information
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Marta Nice Sorce1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-5869-8654View further author information
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Sabrina Invernizzi1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-8748-4444View further author information
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Serena Santangelo3 Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy, andORCID Iconhttps://orcid.org/0000-0003-1376-5398View further author information
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Claudia Morelli1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, ItalyORCID Iconhttps://orcid.org/0000-0003-4027-958XView further author information
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Federico Verde1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy;4 “Dino Ferrari” Center, Dept. of Pathophysiology and Transplantation, University of Milan, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-3977-6995View further author information
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Vincenzo Silani1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy;4 “Dino Ferrari” Center, Dept. of Pathophysiology and Transplantation, University of Milan, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-7698-3854View further author information
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Nicola Ticozzi1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy;4 “Dino Ferrari” Center, Dept. of Pathophysiology and Transplantation, University of Milan, Milan, ItalyORCID Iconhttps://orcid.org/0000-0001-5963-7426View further author information
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Antonia Ratti1 Department of Neurology—Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy;3 Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy, andCorrespondence[email protected] [email protected]
ORCID Iconhttps://orcid.org/0000-0002-4264-6614View further author information
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Pages 207-210 | Received 11 Aug 2023, Accepted 10 Oct 2023, Published online: 01 Nov 2023

References

  • Balendra R, Isaacs AM. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat Rev Neurol. 2018;14:544–58.
  • Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet. 2013;92:345–53.
  • Tiloca C, Sorosina M, Esposito F, Peroni S, Colombrita C, Ticozzi N, et al. No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis. Mult Scler Relat Disord. 2018;25:192–5.
  • Ng ASL, Tan EK. Intermediate C9orf72 alleles in neurological disorders: does size really matter? J Med Genet. 2017;54:591–7.
  • van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, et al. A Pan-European Study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 2013;34:363–73.
  • Ratti A, Peverelli S, D'Adda E, Colombrita C, Gennuso M, Prelle A, et al. Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes. Amyotroph Lateral Scler Frontotemporal Degener. 2022;23:292–8.
  • Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, et al. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry. 2016;21:1112–24.
  • Cali CP, Patino M, Tai YK, Ho WY, McLean CA, Morris CM, et al. C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy. Acta Neuropathol. 2019;138:795–811.
  • Rutherford NJ, Heckman MG, DeJesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012;33:2950.e5–2950-e7.
  • Tang L, Chen L, Liu X, He J, Ma Y, Zhang N, et al. The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions. Front Neurol. 2022;13:939775.

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