EXCLUSION OF THE CANDIDATE LOCUS FSP1 IN 6 FAMILIES WITH LATE-ONSET AUTOSOMAL-DOMINANT SPASTIC PARAPLEGIA

被引:5
作者
FONTAINE, B
RIME, CS
HAZAN, J
DURR, A
STEVANIN, G
PENET, C
REBOUL, J
AGID, Y
LYONCAEN, O
BAUMANN, N
WEISSENBACH, J
BRICE, A
机构
[1] HOP LA PITIE SALPETRIERE,FEDERAT NEUROL,F-75013 PARIS,FRANCE
[2] HOP LA PITIE SALPETRIERE,INSERM,U289,F-75013 PARIS,FRANCE
[3] HOP LA PITIE SALPETRIERE,INSERM,U360,F-75013 PARIS,FRANCE
[4] INST PASTEUR,CNRS,URA 1445,F-75015 PARIS,FRANCE
关键词
D O I
10.1016/0960-8966(94)E0024-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary spastic paraplegias are neurological hereditary conditions of unknown aetiology. In pure spastic paraplegia, most of the pedigrees display an autosomal dominant mode of inheritance. A gene for pure autosomal dominant spastic paraplegia (ADSP), termed FSP1, was mapped to chromosome 14q in a large pedigree with early-onset disease. This locus was tested by linkage analysis in six large French kindreds of ADSP with late-onset disease, using four microsatellites spanning a 9 cM interval including FSP1. FSP1 could be excluded in five of the six families, while no evidence for linkage was found in the remaining family. These results suggest that FSP1 is not involved in late onset ADSP, at least in the six families studied.
引用
收藏
页码:11 / 17
页数:7
相关论文
共 14 条
  • [1] ADAMS JH, 1992, GREENFIELDS NEUROPAT, P1033
  • [2] THE AUTOSOMAL DOMINANT FORM OF PURE FAMILIAL SPASTIC PARAPLEGIA - CLINICAL FINDINGS AND LINKAGE ANALYSIS OF A LARGE PEDIGREE
    BOUSTANY, RMN
    FLEISCHNICK, E
    ALPER, CA
    MARAZITA, ML
    SPENCE, MA
    MARTIN, JB
    KOLODNY, EH
    [J]. NEUROLOGY, 1987, 37 (06) : 910 - 915
  • [3] DURR A, IN PRESS NEUROLOGY
  • [4] DNA POLYMORPHISM AND HUMAN-DISEASE
    GUSELLA, JF
    [J]. ANNUAL REVIEW OF BIOCHEMISTRY, 1986, 55 : 831 - 854
  • [5] HEREDITARY PURE SPASTIC PARAPLEGIA - A CLINICAL AND GENETIC-STUDY OF 22 FAMILIES
    HARDING, AE
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1981, 44 (10) : 871 - 883
  • [6] A GENETIC-LINKAGE MAP OF HUMAN CHROMOSOME-20 COMPOSED ENTIRELY OF MICROSATELLITE MARKERS
    HAZAN, J
    DUBAY, C
    PANKOWIAK, MP
    BECUWE, N
    WEISSENBACH, J
    [J]. GENOMICS, 1992, 12 (02) : 183 - 189
  • [7] AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA IS GENETICALLY HETEROGENEOUS AND ONE LOCUS MAPS TO CHROMOSOME-14Q
    HAZAN, J
    LAMY, C
    MELKI, J
    MUNNICH, A
    DERECONDO, J
    WEISSENBACH, J
    [J]. NATURE GENETICS, 1993, 5 (02) : 163 - 167
  • [8] LATHROP GM, 1985, AM J HUM GENET, V37, P482
  • [9] MCKUSICK VA, 1990, MENDELIAN INHERITANC, P1
  • [10] OTT J, 1994, ANAL HUMAN GENETICS, P1