HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A CLINICAL, ELECTRONEUROPHYSIOLOGICAL AND MORPHOLOGICAL-STUDY

被引:75
作者
VERHAGEN, WIM
GABREELSFESTEN, AAWM
VANWENSEN, PJM
JOOSTEN, EMG
VINGERHOETS, HM
GABREELS, FJM
DEGRAAF, R
机构
[1] CATHOLIC UNIV NIJMEGEN,ST RADBOUD HOSP,INST NEUROL,POB 9101,6500 HB NIJMEGEN,NETHERLANDS
[2] CATHOLIC UNIV NIJMEGEN,ST RADBOUD HOSP,DEPT STAT CONSULTAT,NIJMEGEN,NETHERLANDS
关键词
HEREDITARY NEUROPATHY; NERVE CONDUCTION VELOCITY; ELECTRON-MICROSCOPY; MORPHOMETRY;
D O I
10.1016/0022-510X(93)90323-Q
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Clinical, electroneurographic and myographic studies were performed on 99 patients of t3 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occured. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.
引用
收藏
页码:176 / 184
页数:9
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