CONGENITAL MYASTHENIC SYNDROMES .2. SYNDROME ATTRIBUTED TO ABNORMAL INTERACTION OF ACETYLCHOLINE WITH ITS RECEPTOR

被引:61
作者
UCHITEL, O
ENGEL, AG
WALLS, TJ
NAGEL, A
ATASSI, MZ
BRIL, V
机构
[1] MAYO CLIN & MAYO FDN, DEPT NEUROL, ROCHESTER, MN 55905 USA
[2] MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
[3] UNIV BUENOS AIRES, FAC MED, BUENOS AIRES, ARGENTINA
[4] BAYLOR COLL MED, DEPT BIOCHEM, HOUSTON, TX 77030 USA
[5] UNIV TORONTO, DEPT NEUROL, TORONTO M5S 1A1, ONTARIO, CANADA
关键词
CONGENITAL MYASTHENIC SYNDROME; ACETYLCHOLINE RECEPTOR; NEUROMUSCULAR JUNCTION; NOISE ANALYSIS;
D O I
10.1002/mus.880161205
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 21-year-old woman had myasthenic symptoms since birth that responded poorly to anticholinesterase therapy. Tests for acetylcholine receptor (AChR) antibodies were negative. An intercostal muscle specimen was obtained to investigate the character of the neuromuscular transmission defect. There were no immune deposits at the endplates. The quantal content of the endplate potential was normal. Miniature endplate potentials and currents were very small, but the number of AChR per endplate was normal. On electron microscopy, the synaptic vesicles were of normal size, the junctional folds were intact, and the density and distribution of AChR on the folds was normal. The kinetic properties of AChR were studied by analysis of acetylcholine (ACh)-induced current noise. The mean single channel conductance was normal. The noise power spectrum was abnormal, containing two components of different time course. This could result from an abnormal interaction of ACh with AChR, or from two populations of AChR at the endplate. The second possibility is unlikely because if two populations of AChR were present at the endplate, then both would have to have low conductance to explain the small miniature endplate current, but the average conductance of the channels that did open was normal. (C) 1993 John Wiley & Sons, Inc.
引用
收藏
页码:1293 / 1301
页数:9
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