Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene

被引:47
作者
Antoine, JC
Laplanche, JL
Mosnier, JF
Beaudry, P
Chatelain, J
Michel, D
机构
[1] HOP BELLEVUE, SERV ANATOMOPATHOL, F-42055 ST ETIENNE 2, FRANCE
[2] SERV BIOCHIM & NEUROBIOL, BEAUDRY, FRANCE
[3] HOP ST LOUIS, PARIS, FRANCE
关键词
D O I
10.1212/WNL.46.4.1123
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion protein, in the central and peripheral nervous system of a patient with a Glu200Lys mutation of the prion protein gene, cerebellar ataxia, subcortical dementia, rigidity, and demyelinating peripheral neuropathy. In the CNS, there was neuron loss and spongy degeneration, principally in the cerebellum, and with progressively lower density in the caudate nucleus, thalamus, temporal cortex, frontal cortex, and brainstem. Evaluation of the expression of PrP27-30 by Western blot showed that its distribution correlated with the intensity of the lesions in these regions. In contrast, we did not detect PrP27-30 in the peripheral nervous system where lesions consisted of demyelination, and remyelination that predominated in the proximal nerve trunks and roots.
引用
收藏
页码:1123 / 1127
页数:5
相关论文
共 35 条
  • [1] NEARLY UBIQUITOUS TISSUE DISTRIBUTION OF THE SCRAPIE AGENT PRECURSOR PROTEIN
    BENDHEIM, PE
    BROWN, HR
    RUDELLI, RD
    SCALA, LJ
    GOLLER, NL
    WEN, GY
    KASCSAK, RJ
    CASHMAN, NR
    BOLTON, DC
    [J]. NEUROLOGY, 1992, 42 (01) : 149 - 156
  • [2] BORCHELT DR, 1994, J BIOL CHEM, V269, P14711
  • [3] HUMAN SPONGIFORM ENCEPHALOPATHY - THE NATIONAL-INSTITUTES-OF-HEALTH SERIES OF 300 CASES OF EXPERIMENTALLY TRANSMITTED DISEASE
    BROWN, P
    GIBBS, CJ
    RODGERSJOHNSON, P
    ASHER, DM
    SULIMA, MP
    BACOTE, A
    GOLDFARB, LG
    GAJDUSEK, DC
    [J]. ANNALS OF NEUROLOGY, 1994, 35 (05) : 513 - 529
  • [4] FAMILIAL CREUTZFELDT-JAKOB DISEASE IN CHILE IS ASSOCIATED WITH THE CODON-200 MUTATION OF THE PRNP AMYLOID PRECURSOR GENE ON CHROMOSOME-20
    BROWN, P
    GALVEZ, S
    GOLDFARB, LG
    NIETO, A
    CARTIER, L
    GIBBS, CJ
    GAJDUSEK, DC
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1992, 112 (1-2) : 65 - 67
  • [5] BRUNET P, 1986, REV NEUROL, V142, P159
  • [6] CLINICAL HETEROGENEITY AND UNUSUAL PRESENTATIONS OF CREUTZFELDT-JAKOB-DISEASE IN JEWISH PATIENTS WITH THE PRNP CODON 200 MUTATION
    CHAPMAN, J
    BROWN, P
    GOLDFARB, LG
    ARLAZOROFF, A
    GAJDUSEK, DC
    KORCZYN, AD
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1993, 56 (10) : 1109 - 1112
  • [7] THE NEUROCHEMISTRY OF PRION DISEASES
    DEARMOND, SJ
    PRUSINER, SB
    [J]. JOURNAL OF NEUROCHEMISTRY, 1993, 61 (05) : 1589 - 1601
  • [8] DYCK PJ, 1993, PERIPHERAL NEUROPATH, V1, P514
  • [9] MUTATION IN CODON-200 OF SCRAPIE AMYLOID PROTEIN GENE IN 2 CLUSTERS OF CREUTZFELDT-JAKOB DISEASE IN SLOVAKIA
    GOLDFARB, LG
    MITROVA, E
    BROWN, P
    TOH, BH
    GAJDUSEK, DC
    [J]. LANCET, 1990, 336 (8713) : 514 - 515
  • [10] MUTATION IN CODON-200 OF SCRAPIE AMYLOID PRECURSOR GENE LINKED TO CREUTZFELDT-JAKOB DISEASE IN SEPHARDIC JEWS OF LIBYAN AND NON-LIBYAN ORIGIN
    GOLDFARB, LG
    KORCZYN, AD
    BROWN, P
    CHAPMAN, J
    GAJDUSEK, DC
    [J]. LANCET, 1990, 336 (8715) : 637 - 638