Two divergent types of nerve pathology in patients with different P-0 mutations in Charcot-Marie-Tooth disease

被引:119
作者
GabreelsFesten, AAWM
Hoogendijk, JE
Meijerink, PHS
Gabreels, FJM
Bolhuis, PA
vanBeersum, S
Kulkens, T
Nelis, E
Jennekens, FGI
deVisser, M
vanEngelen, BGM
Van Broeckhoven, C
Mariman, ECM
机构
[1] UNIV UTRECHT HOSP, DEPT NEUROL, UTRECHT, NETHERLANDS
[2] UNIV AMSTERDAM, ACAD MED CTR, DEPT NEUROL, NL-1105 AZ AMSTERDAM, NETHERLANDS
[3] UNIV NIJMEGEN, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS
[4] UNIV ANTWERP, NEUROGENET LAB, ANTWERP, BELGIUM
关键词
D O I
10.1212/WNL.47.3.761
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P-0 gene. Morphologic examination of sural nerve biopsy specimens showed a demyelinating process with onion bulb formation in all cases. In four patients, ultrastructural examination demonstrated uncompacted myelin in 23 to 68% of the myelinated fibers, which is in agreement with the widely accepted function of P-0 as a hemophilic adhesion molecule. Three patients showed normal compact myelin, but morphology was dominated by the abundant occurrence of focally folded myelin. The two divergent pathologic phenotypes exemplify that some mutations act differently on P-0 protein formation or function than others, which is probably determined by site and nature of the mutation in the P-0 gene.
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页码:761 / 765
页数:5
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