Genetic disorders of motor neurons

被引:16
作者
Cole, N [1 ]
Siddique, T [1 ]
机构
[1] Northwestern Univ, Sch Med, Dept Neurol, Chicago, IL 60611 USA
关键词
motor neuron disorders; spinal muscular atrophy; Kennedy disease; amyotrophic lateral sclerosis; neurodegeneration; genetics; genes;
D O I
10.1055/s-2008-1040855
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Disorders of the motor neuron are etiologically and clinically heterogeneous and cause serious disability and death. Whereas mendelian inheritance can be demonstrated in a subset of these disorders, the genetic contribution to the sporadic forms of motor neuron degeneration are not well understood. In families with spinal muscular atrophy, Kennedy disease and amyotrophic lateral sclerosis, genetic linkage analysis and positional cloning have proven to be extremely productive. The genetics of these neurodegenerative disorders are reviewed.
引用
收藏
页码:407 / 418
页数:12
相关论文
共 123 条
  • [111] Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
    Taylor, JE
    Thomas, NH
    Lewis, CM
    Abbs, SJ
    Rodrigues, NR
    Davies, KE
    Mathew, CG
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (05) : 467 - 474
  • [112] Genistein is neuroprotective in murine models of familial amyotrophic lateral sclerosis and stroke
    Trieu, VN
    Uckun, FM
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1999, 258 (03) : 685 - 688
  • [113] SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter
    Trotti, D
    Rolfs, A
    Danbolt, NC
    Brown, RH
    Hediger, MA
    [J]. NATURE NEUROSCIENCE, 1999, 2 (05) : 427 - 433
  • [114] Biochemistry - Delivering copper inside yeast and human cells
    Valentine, JS
    Gralla, EB
    [J]. SCIENCE, 1997, 278 (5339) : 817 - 818
  • [115] PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
    VANDERSTEEGE, G
    GROOTSCHOLTEN, PM
    VANDERVLIES, P
    DRAAIJERS, TG
    OSINGA, J
    COBBEN, JM
    SCHEFFER, H
    BUYS, CHCM
    [J]. LANCET, 1995, 345 (8955): : 985 - 986
  • [116] Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
    Vechio, JD
    Bruijn, LI
    Xu, ZS
    Brown, RH
    Cleveland, DW
    [J]. ANNALS OF NEUROLOGY, 1996, 40 (04) : 603 - 610
  • [117] Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (c)BCD541 and SMA phenotype
    Velasco, E
    Valero, C
    Valero, A
    Moreno, F
    HernandezChico, C
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (02) : 257 - 263
  • [118] Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants
    Vyth, A
    Timmer, JG
    Bossuyt, PMM
    Louwerse, ES
    deJong, JMBV
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 139 : 99 - 103
  • [119] Clinical and molecular aspects of androgen receptor defects
    Wieacker, PF
    Knoke, I
    Jakubiczka, S
    [J]. EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 1998, 106 (06) : 446 - 453
  • [120] Tau mutations in frontotemporal dementia
    Wilhelmsen, KC
    Clark, LN
    Miller, BL
    Geschwind, DH
    [J]. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 1999, 10 : 88 - 92