Biogen Idec Ltd (2022) Spinraza 12 mg solution for injection—summary of product characteristics. www.medicines.org.uk/emc/product/2715

Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, McLaughlin R, Hardiman O (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82:623–627

Article  PubMed  Google Scholar 

Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A (1999) The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 169:13–21

Article  PubMed  Google Scholar 

Kleyweg RP, van der Meche FG, Schmitz PI (1991) Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain–Barre syndrome. Muscle Nerve 14:1103–1109

Article  PubMed  Google Scholar 

Ludolph AC, Emilian S, Dreyhaupt J, Rosenbohm A, Kraskov A, Lemon RN, Del Tredici K, Braak H (2020) Pattern of paresis in ALS is consistent with the physiology of the corticomotoneuronal projections to different muscle groups. J Neurol Neurosurg Psychiatry 91:991–998

Article  PubMed  Google Scholar 

Maier A, Boentert M, Reilich P, Witzel S, Petri S, Grosskreutz J, Metelmann M, Lingor P, Cordts I, Dorst J, Zeller D, Gunther R, Hagenacker T, Grehl T, Spittel S, Schuster J, Ludolph A, Meyer T, Group M-N (2022) ALSFRS-R-SE: an adapted, annotated, and self-explanatory version of the revised amyotrophic lateral sclerosis functional rating scale. Neurol Res Pract 4:60

Article  PubMed  PubMed Central  Google Scholar 

Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chio A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S, Valor, Group OLEW (2022) Trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med 387:1099–1110

Article  PubMed  Google Scholar 

Ravits JM, La Spada AR (2009) ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration. Neurology 73:805–811

Article  PubMed  PubMed Central  Google Scholar 

Ruf WP, Boros M, Freischmidt A, Brenner D, Grozdanov V, de Meirelles J, Meyer T, Grehl T, Petri S, Grosskreutz J, Weyen U, Guenther R, Regensburger M, Hagenacker T, Koch JC, Emmer A, Roediger A, Steinbach R, Wolf J, Weishaupt JH, Lingor P, Deschauer M, Cordts I, Klopstock T, Reilich P, Schoeberl F, Schrank B, Zeller D, Hermann A, Knehr A, Gunther K, Dorst J, Schuster J, Siebert R, Ludolph AC, Muller K (2023) Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain Commun 5:fcad152

Article  PubMed  PubMed Central  Google Scholar 

Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, von Arnim CA, Bohm S, Kassubek J, Kubisch C, Lule D, Muller HP, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk AE, Weydt P, Ludolph AC, Otto M (2016) Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry 87:12–20

PubMed  Google Scholar 

Stoker TB, Andresen KER, Barker RA (2021) Hydrocephalus complicating intrathecal antisense oligonucleotide therapy for Huntington’s disease. Mov Disord 36:263–264

Article  PubMed  Google Scholar 

Viscidi E, Wang N, Juneja M, Bhan I, Prada C, James D, Lallier S, Makepeace C, Laird K, Eaton S, Dilley A, Hall S (2021) The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): results from a US electronic health records study. Orphanet J Rare Dis 16:207

Article  PubMed  PubMed Central  Google Scholar 

Zou ZY, Zhou ZR, Che CH, Liu CY, He RL, Huang HP (2017) Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 88:540–549

Article  PubMed  Google Scholar