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Lookup NU author(s): Dr Teresinha Evangelista, Dr Ana TopfORCiD, Professor Hanns Lochmuller
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Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes. We present a comprehensive description of the clinical and molecular findings of ten patients with CMS due to mutations in RAPSN, mostly with a long-term follow-up. Two patients were homozygous and eight were heterozygous for the common p.Asn88Lys mutation. In three of the heterozygous patients we have identified three novel mutations (c.869T > C; p.Leu290Pro, c.1185delG; p.Thr396Profs*12, and c.358delC; p.G1n120Serfs*8). In our cohort, the RAPSN mutations lead to a relatively homogeneous phenotype, characterized by fluctuating ptosis, occasional bulbar symptoms, neck muscle weakness, and mild proximal muscle weakness with exacerbations precipitated by minor infections. Interestingly, episodic exacerbations continue to occur during adulthood. These were characterized by proximal limb girdle weakness and ptosis, and not so much by respiratory insufficiency after age 6. All patients presented during neonatal period and responded to cholinergic agonists. In most of the affected patients, additional use of 3,4-diaminopyridine resulted in significant clinical benefit. The disease course is stable except for intermittent worsening. (C) 2015 Elsevier B.V. All rights reserved.
Author(s): Natera-de Benito D, Bestue M, Vilchez JJ, Evangelista T, Topf A, Garcia-Ribes A, Trujillo-Tiebas MJ, Garcia-Hoyos M, Ortez C, Camacho A, Jimenez E, Dusl M, Abicht A, Lochmuller H, Colomer J, Nascimento A
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2016
Volume: 26
Issue: 2
Pages: 153-159
Print publication date: 01/02/2016
Online publication date: 23/11/2015
Acceptance date: 29/10/2015
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.nmd.2015.10.013
DOI: 10.1016/j.nmd.2015.10.013
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