Toggle Main Menu Toggle Search

Open Access padlockePrints

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

Lookup NU author(s): Dr Juliane Mueller, Professor Hanns Lochmuller

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

Congenital myasthenic syndromes (CMS) result from mutations in various synapse-associated genes. Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA). We present two unrelated Croatian children affected by CMS-EA. Beside other clinical findings characteristic for CMS, both patients manifested intermittent apneas since early infancy. Whereas the course of disease is mild in the female patient (patient 2), the male patient (patient 1) experienced recurrent and severe episodes of apnea despite adequate treatment with AChE-inhibitors and shows a global developmental delay with delayed myelination and signs of hypoxic-ischemic injury in brain imaging. Interestingly, sequencing of the CHAT gene revealed identical, compound heterozygous mutations S694C and T354M in both children. These findings are in line with a remarkable clinical heterogeneity observed in patients with CHAT mutations and emphasize the potential role of apneic crises for the development of secondary hypoxic brain damage and psychomotor retardation.


Publication metadata

Author(s): Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A

Publication type: Article

Publication status: Published

Journal: European Journal of Paediatric Neurology

Year: 2005

Volume: 9

Issue: 1

Pages: 7-12

ISSN (print): 1090-3798

ISSN (electronic): 1532-2130

Publisher: Elsevier Ltd

URL: http://dx.doi.org/10.1016/j.ejpn.2004.10.008

DOI: 10.1016/j.ejpn.2004.10.008


Altmetrics

Altmetrics provided by Altmetric


Share