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A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

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References

  1. 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

    Article  CAS  PubMed  Google Scholar 

  2. Padberg GW, Lunt PW, Koch M (1991) Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1(4):231–234

    Article  CAS  PubMed  Google Scholar 

  3. 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

    Article  PubMed  Google Scholar 

  4. 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

    Article  PubMed  Google Scholar 

  5. 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

    Article  PubMed Central  PubMed  Google Scholar 

  6. 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

    Article  CAS  PubMed  Google Scholar 

  7. 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

    Article  Google Scholar 

  8. 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

    Article  PubMed  Google Scholar 

  9. 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

    Article  PubMed  Google Scholar 

  10. 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

    Article  PubMed  Google Scholar 

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The authors have no competing interest.

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On behalf of all the authors, the corresponding author states that we acted in accordance with the ethical standards of the 1964 Declaration of Helsinki.

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Each patient gave informed consent prior to inclusion in the study.

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Correspondence to Marina Scarlato.

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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

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