ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
作者: S. T. BotJ. H. VeldinkS. VermeerA. R. MensenkampF. BrugmanH. SchefferL. H. den BergH. P. H. KremerE. J. KamsteegB. P. Warrenburg
作者单位: 1Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour
2Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht
3Department of Human Genetics, Radboud University Nijmegen Medical Centre
4Department of Neurology, Rivierenland Hospital
5Institute for Genetic and Metabolic Diseases
6Department of Neurology, University of Groningen, University Medical Centre Groningen
刊名: Journal of Neurology, 2013, Vol.260 (3), pp.869-875
来源数据库: Springer Nature Journal
DOI: 10.1007/s00415-012-6723-z
关键词: Hereditary Spastic ParaplegiaATL1REEP1SporadicUpper motor neuron diseaseGenetic screening
英文摘要: Abstract(#br) SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST -negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.
全文获取路径: Springer Nature  (合作)
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影响因子:3.578 (2012)

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关键词翻译
关键词翻译
  • hereditary 遗传性
  • sporadic 零星的
  • upper 上面的
  • neuron 神经元
  • ATL Active Task List
  • motor 发动机