Vol 54, No 5 (2020)
Letter to the Editors
Published online: 2020-08-05

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Spinal muscular atrophy with an overlapping syndrome — “double trouble” or a potentially better outcome?

Anna Frączek1, Anna Potulska-Chromik1, Małgorzata Bednarska-Makaruk2, Anna Sułek2, Ewa Obersztyn3, Natalia Braun-Walicka3, Barbara Ryniewicz1, Anna Kostera-Pruszczyk1
Pubmed: 32757203
Neurol Neurochir Pol 2020;54(5):475-477.


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  1. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80(1): 155–165.
  2. Stabley DL, Harris AW, Holbrook J, et al. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015; 3(4): 248–257.
  3. Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007; 22(8): 946–951.
  4. Jedrzejowska M, Ryniewicz B, Kabzińska D, et al. A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3). Neuromuscul Disord. 2008; 18(4): 339–341.
  5. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992; 2(5-6): 423–428.
  6. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012; 20(1): 27–32.
  7. Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017; 264(7): 1465–1473.
  8. Mercuri E, Finkel RS, Muntoni F, et al. SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018; 28(2): 103–115.
  9. Ruano L, Melo C, Silva MC, et al. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3): 174–183.
  10. Shoukier M, Neesen J, Sauter SM, et al. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Eur J Hum Genet. 2009; 17(2): 187–194.
  11. 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. 2015; 262(2): 476–478.
  12. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985; 21(3): 493–506.
  13. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007; 2: 4.
  14. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001; 29(4): 465–468.
  15. Dinopoulos A, Papadopoulou A, Manta P, et al. Coinheritance of Noonan syndrome and Becker muscular dystrophy. Neuromuscul Disord. 2010; 20(1): 61–63.
  16. Sharland M, Burch M, McKenna WM, et al. A clinical study of Noonan syndrome. Arch Dis Child. 1992; 67(2): 178–183.
  17. Croonen EA, Essink M, van der Burgt I, et al. Motor performance in children with Noonan syndrome. Am J Med Genet A. 2017; 173(9): 2335–2345.
  18. Fernández RM, Peciña A, Muñoz-Cabello B, et al. Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient. Clin Case Rep. 2016; 4(9): 879–884.
  19. Aartsma-Rus A. FDA Approval of Nusinersen for Spinal Muscular Atrophy Makes 2016 the Year of Splice Modulating Oligonucleotides. Nucleic Acid Ther. 2017; 27(2): 67–69.
  20. Chiriboga CA. Nusinersen for the treatment of spinal muscular atrophy. Expert Rev Neurother. 2017; 17(10): 955–962.
  21. Wadman RI, van der Pol WL, Bosboom WMj, et al. Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst Rev. 2011; 1(12): CD006281.
  22. Kariyawasam D, Carey KA, Jones KJ, et al. New and developing therapies in spinal muscular atrophy. Paediatr Respir Rev. 2018; 28: 3–10.

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