Literature DB >> 19499232

[Ocular motility disorders in a patient with Fabry's disease].

B Fiore1, M Klopfer, C Schwebig, A Wiescher, I Lanzl.   

Abstract

Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.

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Mesh:

Year:  2009        PMID: 19499232     DOI: 10.1007/s00347-008-1697-z

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  5 in total

1.  CNS manifestations of Fabry's disease.

Authors:  Andreas Fellgiebel; Matthias J Müller; Lionel Ginsberg
Journal:  Lancet Neurol       Date:  2006-09       Impact factor: 44.182

Review 2.  [Blepharospasm caused by bilateral paramedian thalamic infarction].

Authors:  A Awada
Journal:  Rev Neurol (Paris)       Date:  1997-02       Impact factor: 2.607

Review 3.  [Neurological aspects of Fabry's disease].

Authors:  P Clavelou; G Besson; C Elziere; A Ferrier; J-M Pinard; M Hermier; J Y Artigou; D P Germain
Journal:  Rev Neurol (Paris)       Date:  2006-05       Impact factor: 2.607

4.  Upbeat nystagmus in a patient with a small medullary infarct.

Authors:  N A Munro; B Gaymard; S Rivaud; A Majdalani; C Pierrot-Deseilligny
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-10       Impact factor: 10.154

5.  Structural and functional MRIs disclose cerebellar pathologies in idiopathic downbeat nystagmus.

Authors:  K Hüfner; T Stephan; R Kalla; A Deutschländer; J Wagner; M Holtmannspötter; G Schulte-Altedorneburg; M Strupp; T Brandt; S Glasauer
Journal:  Neurology       Date:  2007-09-11       Impact factor: 9.910

  5 in total
  1 in total

1.  GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Authors:  Zhe-Yi Dong; Qian Wang; Shu-Peng Lin; Pu Chen; Jiao-Na Liu; Shu-Wen Liu; Guang-Yan Cai; Xiang-Mei Chen; Quan Hong
Journal:  Ann Transl Med       Date:  2020-07
  1 in total

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