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Case Reports

Neurophysiolgical implications in sialidosis type 1: a case report

, , , & ORCID Icon
Pages 589-592 | Received 28 May 2019, Accepted 18 Sep 2020, Published online: 13 Oct 2020

References

  • Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015;15(3):164–171.
  • Durand P, Gatti R, Cavalieri S, et al. Sialidosis (mucolipidosis I). Helv Paediatr Acta. 1977;32(4-5):391–400.
  • Lowden JA, O'Brien JS. Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet. 1979;31(1):1–18.
  • Lukong KE, Elsliger MA, Chang Y, et al. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Hum Mol Genet. 2000;9(7):1075–1085.
  • Bonten EJ, Arts WF, Beck M, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. 2000;9(18):2715–2725.
  • Lai SC, Chen RS, Wu Chou YH, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Eur J Neurol. 2009;16(8):912–919.
  • Hu SC, Hung KL, Chen HJ, et al. Seizure remission and improvement of neurological function in sialidosis with perampanel therapy. Epilepsy Behav Case Rep. 2018;10:32–34.
  • Fan SP, Lee NC, Lin CH. Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. J Formos Med Assoc. 2020;119(1 Pt 3):406–412.
  • Ahn JH, Kim AR, Lee C, et al. Type 1 sialidosis patient with a novel deletion mutation in the NEU1 gene: case report and literature review. Cerebellum. 2019;18(3):659–664.
  • Kersten HM, Roxburgh RH, Danesh-Meyer HV, et al. Optical coherence tomography findings in a patient with type 1 sialidosis. J Clin Neurosci. 2016;31:199–201.
  • Wang IH, Lin TY, Kao ST. Optical coherence tomography features in a case of type I sialidosis. Taiwan J Ophthalmol. 2017;7(2):108–111.
  • Cassim F, Houdayer E. Neurophysiology of myoclonus. Neurophysiol Clin. 2006;36(5-6):281–291.
  • Avanzini G, Shibasaki H, Rubboli G, et al. Neurophysiology of myoclonus and progressive myoclonus epilepsies. Epileptic Disord. 2016;18(S2):11–27.
  • Latorre A, Rocchi L, Berardelli A, et al. Reappraisal of cortical myoclonus: a retrospective study of clinical neurophysiology. Mov Disord. 2018;33(2):339–341.
  • Canafoglia L, Robbiano A, Pareyson D, et al. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Neurology. 2014;82(22):2003–2006.

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