Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot‐Marie‐Tooth disease (CMT)
Heterogeneity of hereditary motor and sensory neuropathy Type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot‐Marie‐Tooth disease (CMT)
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遗传性运动和感觉神经病 I 型 (HMSN I) 的异质性：夏科-玛丽-图思病 (CMT) 家族的神经电图表现、视觉诱发电位和血型标记物
DOI：
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发表时间：
1986
影响因子：
3.5
通讯作者：
E. Deisenhammer
中科院分区：
文献类型：
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作者：
F. Leblhuber;F. Reisecker;W. Mayr;E. Deisenhammer
本文对21名具有典型临床表现的常染色体显性遗传CMT大家系成员进行了神经电图、视觉诱发电位（VEP）和血型标记物研究。在临床受影响的成员中，正中神经的平均运动神经传导速度（NCV）为17.5 m/s（SD 2.4）。与以前在具有可比的慢运动NCV的CMT家族中的遗传连锁研究相反，该家族的血型分型排除了HMSN I与Duffy位点的紧密连锁，这可能表明CMT神经病中存在另一个亚组。临床受累组和未受累组的VEP平均潜伏期与正常组相比均无病理改变。NCV与P100潜伏期无相关性，但在孪生兄弟家系中P100潜伏期有显著性差异。正如其他作者已经提出的，我们的发现也可能表明这种神经病变的异质性。
ABSTRACT 21 members of a large kinship with autosomal dominat CMT showing typical clinical findings were studied electroneurographically, with visual evoked potentials (VEP) and with blood group markers. In clinically affected members, the mean motor nerve conduction velocity (NCV) of the median nerve was found to be 17.5 m/s (SD 2.4). Contrary to previous genetic linkage studies in CMT families with comparable slow motor NCV, blood group typing in this family excluded close linkage of HMSN I to Duffy locus, which may indicate the existence of another subgroup in CMT neuropathy. Mean latencies of VEP, in both clinically affected and unaffected members, showed no pathological alterations when compared to normals. There was no correlation between NCV and P 100 latencies, but significant variation of P 100 latencies in families of twin brothers could be demonstrated. As already suggested by other authors, our findings may also indicate heterogeneity in this neuropathy.
影响因子：
9.8
作者：
T. Bird;J. Ott;E. Giblett
通讯作者：
T. Bird;J. Ott;E. Giblett