A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

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References

  1. 1.

    Jankovic J, Rivera VM. Hereditary myoclonus and progressive distal muscular atrophy. Ann Neurol. 1979;6:227–31.

  2. 2.

    Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012;91:5–14.

  3. 3.

    Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, et al. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014;86:255–563.

  4. 4.

    Gan JJ, Garcia V, Tian J, Tagliati M, Parisi JE, Chung JM, et al. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord. 2015;25:959–63.

  5. 5.

    Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1. Epilepsia. 2015;56:692–8.

  6. 6.

    Teoh HL, Solyom A, Schuchman EH, Mowat D, Roscioli T, Farrar M, et al. Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency. Pediatrics. 2016;138:e20161068.

  7. 7.

    Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mut. 2017;38:611–4.

  8. 8.

    Topaloglu H, Melki J. Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic Disord. 2016;18:S128–34.

  9. 9.

    Schuchman EH. Acid ceramidase and the treatment of ceramide diseases: the expanding role of enzyme replacement therapy. Biochim Biophys Acta. 2016;1862:1459–71.

  10. 10.

    Filosto M, Aureli M, Castelotti B, Rinaldi F, Schiumarini D, Valsecchi M, et al. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. Eur J Hum Genet. 2016;24:1578–83.

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Acknowledgements

NAMEvdB received a grant from the Prinses Beatrix Spierfonds. Exome sequencing took place as part of the “Myocapture sequencing project”, financed through the France Génomique National infrastructure (“Investissements d’Avenir” program ANR-10-INBS-09) and the Fondation Maladies Rares.

Authors contributions

NAMEvdB analysis and interpretation of data, drafting of manuscript. IN acquisition of data, critical revision of manuscript for intellectual content. RF acquisition of data, critical revision of manuscript for intellectual content. TL acquisition of data, critical revision of manuscript for intellectual content. VG acquisition of data, critical revision of manuscript for intellectual content. EL acquisition of data, critical revision of manuscript for intellectual content. AB acquisition of data, critical revision of manuscript for intellectual content. CM acquisition of data, critical revision of manuscript for intellectual content. NBR acquisition of data, critical revision of manuscript for intellectual content. GB acquisition of data, critical revision of manuscript for intellectual content. AB acquisition of data, analysis and interpretation of data, critical revision of manuscript for intellectual content. All authors read, revised and approved the final manuscript.

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Correspondence to Anthony Béhin.

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All the raw data presented in this study are available to the corresponding author.

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