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

European Journal of Paediatric Neurology

Volumn 9, Issue 1, 2005, Pages 7-12

  Barisic, N ^a   Muller J S ^b   Paucic Kirincic, E ^c   Gazdik, M ^c   Lah Tomulic, K ^c   Pertl, A ^b   Sertic, J ^d   Zurak, N ^a   Lochmuller H ^b   Abicht, A ^b,e  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c Clinical Hospital Centre Rijeka Children's Hospital Kantrida   (Croatia)

^d KBC Zagreb   (Croatia)

^e Genzentrum München ^*  (Germany)

Author keywords

CHAT mutation; Choline acetyltransferase (ChAT); Congenital myasthenic syndrome; Episodic apnea

Indexed keywords

CHOLINE ACETYLTRANSFERASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

APNEA; ARTICLE; BRAIN HYPOXIA; BRAIN ISCHEMIA; CHILD CARE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIA SYNDROME; CONTROLLED STUDY; CROATIA; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MYELINATION; NEUROIMAGING; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESYNAPTIC POTENTIAL; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECURRENT DISEASE; SEQUENCE ANALYSIS; SEX DIFFERENCE;

APNEA; CHOLINE O-ACETYLTRANSFERASE; CROATIA; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; HYPOXIA, BRAIN; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; RESPIRATORY INSUFFICIENCY;

EID: 13444312210     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejpn.2004.10.008     Document Type: Article

References (19)

1. A.G. Engel Myasthenic syndromes. In: A.G. Engel (Ed.). Myology, F.-A.C.e 1994 McGraw-Hill New York 1798-1835
2. A.G. Engel K. Ohno S.M. Sine Congenital myasthenic syndromes: Progress over the past decade Muscle Nerve 27 2003 4-25
3. C. Donger E. Krejci A.P. Serradell et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) Am J Hum Genet 63 1998 967-975
4. K. Ohno J. Brengman A. Tsujino A.G. Engel Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme Proc Natl Acad Sci USA 95 1998 9654-9659
5. K. Ohno A.G. Engel J.M. Brengman et al. The spectrum of mutations causing end-plate acetylcholinesterase deficiency Ann Neurol 47 2000 162-170
6. K. Ohno A. Tsujino J.M. Brengman et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans Proc Natl Acad Sci USA 98 2001 2017-2022
7. L.E. Eiden The cholinergic gene locus J Neurochem 70 1998 2227-2240
8. C. Schmidt A. Abicht K. Krampfl et al. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase Neuromuscul Disord 13 2003 245-251
9. R.A. Maselli D. Chen D. Mo et al. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis Muscle Nerve 27 2003 180-187
10. R.F. Byring H. Pihko A. Tsujino et al. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death Neuromuscul Disord 12 2002 548-553
11. Y. Cai C.N. Cronin A.G. Engel et al. Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders EMBO J 23 2004 2047-2058
12. E.P. Brandon W. Lin K.A. D'Amour et al. Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice J Neurosci 23 2003 539-549
13. J.M. Lauder U.B. Schambra Morphogenetic roles of acetylcholine Environ Health Perspect 107 Suppl 1 1999 65-69
14. A.G. Karczmar Brief presentation of the story and present status of studies of the vertebrate cholinergic system Neuropsychopharmacology 9 1993 181-199
15. Y. Oda Choline acetyltransferase: The structure, distribution and pathologic changes in the central nervous system Pathol Int 49 1999 921-937
16. A.G. Engel K. Ohno S.M. Sine Sleuthing molecular targets for neurological diseases at the neuromuscular junction Nat Rev Neurosci 4 2003 339-352
17. B. Berse J.K. Blusztajn Coordinated up-regulation of choline acetyltransferase and vesicular acetylcholine transporter gene expression by the retinoic acid receptor alpha, cAMP, and leukemia inhibitory factor/ciliary neurotrophic factor signaling pathways in a murine septal cell line J Biol Chem 270 1995 22101-22104
18. P.S. Sharp J. Dekkers J.R. Dick L. Greensmith Manipulating transmitter release at the neuromuscular junction of neonatal rats alters the expression of ChAT and GAP-43 in motoneurons Brain Res Dev Brain Res 146 2003 29-38
19. H.C. Kinney J.J. Filiano R.M. Harper The neuropathology of the sudden infant death syndrome. A review J Neuropathol Exp Neurol 51 1992 115-126