References
- Therrien M, Dion PA, Rouleau GA. ALS: recent developments from genetics studies. Curr Neurol Neurosci Rep. 2016;16:59.
- Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120–33.
- Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Müh JP, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol. 2002;51:243–6.
- Nishimura AL, Mitne-Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004;75:822–31.
- Marques VD, Barreira AA, Davis MB, Abou-Sleiman PM, Silva WA, Zago MA, et al. Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve. 2006;34:731–9.
- Shaw PJ, Ince PG, Goodship J, Burn J, Slade J, Bates D, et al. Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family. Neurology. 1992;42:1477–80.
- Camu W, Billiard M. Coexistence of amyotrophic lateral sclerosis and Werdnig Hoffman disease within the same family. Muscle Nerve. 1993;16:569–70.
- Corcia P, Khoris J, Couratier P, Mayeux-Portas V, Bieth E, De Toffol B, et al. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology. 2002;59:1464–7.
- 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.
- Mayeux V, Corcia P, Besson G, Jafari-Schluep H-F, Briolotti V, Camu W, et al. N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation. Ann Neurol. 2003;53:815–8.
- Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008;40:572–4.
- Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard J-P, Dupre N, et al. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:113–7.
- Renton AE, Majounie E, Waite A, Simón-Sánchez 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.
- Byrne S, Bede P, Elamin M, Kenna K, Lynch C, McLaughlin R, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:157–9.
- Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, et al. Presymptomatic ALS genetic counseling and testing: experience and recommendations. Neurology. 2016;86:2295–302.
- Camu W, Khoris J, Moulard B, Salachas F, Briolotti V, Rouleau GA, et al. Genetics of familial ALS and consequences for diagnosis. J Neurol Sci. 1999;165:S21–S6.
- Appelbaum JS, ROOS RP, Salazar-Grueso EF, Buchman A, Iannaccone S, Glantz R, et al. Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology. 1992;42:1488–92.
- Marin B, Gil J, Preux PM, Funalot B, Couratier P. Incidence of amyotrophic lateral sclerosis in the limousin region of France, 1997–2007. Amyotroph Lateral Scler. 2009;10:216–20.
- Haverkamp L, Appel V, Appel S. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain. 1995;118:707–19.