INHERITED NEUROAXONAL DYSTROPHY IN C6-DEFICIENT RABBITS

被引:2
|
作者
GIANNINI, C
MONACO, S
KIRSCHFINK, M
ROTHER, KO
DERUIZ, HL
NARDELLI, E
BONETTI, B
SALVIATI, A
ZANETTE, GP
RIZZUTO, N
机构
[1] UNIV VERONA, INST NEUROL, I-37100 VERONA, ITALY
[2] UNIV HEIDELBERG, INST IMMUNOL, W-6900 HEIDELBERG, GERMANY
来源
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 1992年 / 51卷 / 05期
关键词
AXONAL DEGENERATION; AXONAL SPHEROID; C6-DEFICIENT RABBITS; DYSTROPHIC AXON; INHERITED NEUROAXONAL DYSTROPHY;
D O I
10.1097/00005072-199209000-00006
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the occurrence of a progressive neurological syndrome clinically characterized by subacute motor neuropathy in offspring of C6 deficient rabbits. On the basis of the pedigree analysis, the disease appears to be genetically transmitted, most probably with an autosomal recessive mode of inheritance. Pathological studies of affected animals revealed: 1) severe axonal degeneration in the sciatic nerve system involving mainly motor fibers; 2) occasional peripheral axonal enlargement closely associated with axonal degeneration; 3) presence of structured abnormal material in normal-size myelinated fibers of central nervous system (CNS) and peripheral nervous system (PNS); and 4) widespread occurrence of dystrophic axons and axonal spheroids in the gray matter of CNS. By ultrastructural examination, dystrophic axons are filled with tubulovesicular material, stalks of parallel membranes and dense bodies similar to what is described in human neuroaxonal dystrophies (NAD). The disease manifested by C6 deficient rabbits may represent an animal model of primary human NAD.
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页码:514 / 522
页数:9
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