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Brait-Fahn-Schwartz病一例 被引量：3

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摘要 Brait-Fahn-Schwartz病为一种罕见的同时累及运动系统及锥体外系的神经系统退行性疾病,其临床表现为典型的帕金森病合并肌萎缩侧索硬化（amyotrophic lateral sclerosis,ALS）.现报道我院收治的本病患者1例.
作者 刘向一 郑梅 张英爽 何及 叶珊 樊东升
机构地区 北京大学第三医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2016年第6期484-485,共2页 Chinese Journal of Neurology
关键词 神经系统退行性疾病 肌萎缩侧索硬化 锥体外系 运动系统 帕金森病 临床表现
分类号 R741 [医药卫生—神经病学与精神病学]
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参考文献13

  • 1Swinnen B, Robbercht W. The phenotypic variability of amyotrophic lateral sclerosis I J l, Nat Rev Neurol, 2014, 10 (11) : 661-670. DOI: 10. 1038/nmeurol. 2014. 184.
  • 2房效莉,曹幸毅,梅倩倩,张进进,吴士文.肌萎缩侧索硬化与其他神经变性病重叠的研究进展[J].中华神经科杂志,2015,48(5):428-430. 被引量：6
  • 3Pupillo E, Bianchi E, Messina P, et al. Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: a population based cross-sectional study [J].Amyotroph Lateral Scler Frontotemporal Degener, 2015, 116(5-6) : 324-330. DOI: 10. 3109/21678421. 2015. 1040028.
  • 4Gilbert RM, Fahn S, Mitsumoto H, et al. Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes[ J]. Mov Disord, 2010, 25 (12) : 1868-1875. DOI: 10. 1002/mds. 23200.
  • 5Dombroski BA, Galasko DR hexanucleotide repeat expansion Mata IF, et al. C9ort72 and Guam amyotrophic lateralsclerosis-Parkinsonism-dementia complex [J]. JAMA Neurol, 2013, 70(6) : 742-745. DOI: 10. 1001/jamaneurol. 2013. 1817.
  • 6Shindo A, Ueda Y, Kuzuhara S, et al. Neuropsychological study of amyotrophic lateral sclerosis and parkinsonism-dementia complex in Kii peninsula, Japan [ J ]. BMC Neurol, 2014, 14: 151. DOI: 10. 1186/1471-2377-14-151.
  • 7Brait K, Fahn S, Schwarz GA. Sporadic and familial parkinsonism and motor neuron disease[J]. Neurology, 1973, 23 (9) : 990-1002.
  • 8Belin J, Gordon PH, Guennoc AM, et al. Brait-Fahn-Schwarz disease: The missing link between ALS and Parkinson's disease [J]. Amyotroph Lateral Scler Frontotemporal Degener, 2015, 16 (1-2) : 135-136. DOI: 10. 3109/21678421. 2014. 948880.
  • 9Zoccolella S, Palagano G, Fraddosio A, et al. ALS-plus: 5 cases of concomitant amyotrophic lateral sclerosis and parkinsonism [ J ]. Neurol Sci, 2002, 23 Suppl 2: S123-124. DOI: 10. 1007/ s100720200100.
  • 10Manno C, Lipari A, Bono V, et al. Sporadic Parkinson disease and amyotrophic lateral sclerosis complex (Brait-Fahn-Schwartz disease) [J]. J Neurol Sci, 2013, 326(1-2) : 104-106. DOI: 10. 1016/j. jns. 2013.01. 009.

二级参考文献76

  • 1Rosen DR, Siddique T, Patterson D, et al . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature,1993,362:59-62.
  • 2Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet,2001,29 : 166-173.
  • 3Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet,2004,74: 1128-1135.
  • 4Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science,2009,323:1208-1211.
  • 5Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophlc lateral sclerosis. Science ,2009,323 : 1205-1208.
  • 6Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet, 2004,75 : 822-831.
  • 7Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet,2006,38:411-413.
  • 8Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science,2008, 319 : 1668-1672.
  • 9Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet,2008 ,40 :572-574.
  • 10Chow CY, Landers JE, Bergren SK, et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet,2009,84:85-88.

共引文献13

同被引文献10

引证文献3

二级引证文献1

中华神经科杂志
2016年 第6期

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