References
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud’homme JF, Weissenbach J, Dürr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9(4):637–644
Padberg GW, Lunt PW, Koch M (1991) Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1(4):231–234
Hecht MJ, Stolze H, Auf dem Brinke M, Giess R, Treig T, Winterholler M, Wissel J, German Spasticity Education Group (2008) Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia–report of 19 cases. Mov Disord 23(2):228–233
Rudnik-Schöneborn S, Weis J, Kress W, Häusler M, Zerres K (2008) Becker’s muscular dystrophy aggravating facioscapulohumeral muscular dystrophy–double trouble as an explanation for an atypical phenotype. Neuromuscul Disord 18(11):881–885
Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G (2012) Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes. Neuromuscul Disord 22(6):534–540
Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G (2013) Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. Neuromuscul Disord 23(5):427–431
Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC (2013) Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A–evidence for “double trouble” overlapping syndromes. BMC Med Genet 16(14):92
Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G (2008) Novel mitochondrial tRNA Leu (CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscul Disord 18(3):204–209
Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schöls L (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67(3):430–434
Lamperti C, Fabbri G, Vercelli L, D’Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R (2010) A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score. Muscle Nerve 42(2):213–217
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Scarlato, M., Nuara, A., Gerevini, S. et al. A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. J Neurol 262, 476–478 (2015). https://doi.org/10.1007/s00415-014-7606-2
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DOI: https://doi.org/10.1007/s00415-014-7606-2