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      Neuro-ophthalmologic findings in humans with quadrupedal locomotion

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      Author
      Sarac O.
      Gulsuner, S.
      Yildiz-Tasci, Y.
      Ozcelik, T.
      Kansu, T.
      Date
      2012
      Source Title
      Ophthalmic Genetics
      Print ISSN
      13816810
      Volume
      33
      Issue
      4
      Pages
      249 - 252
      Language
      English
      Type
      Article
      Item Usage Stats
      117
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      114
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      Abstract
      Purpose: To report the neuro-ophthalmologic findings in four patients from the same family with cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ)2 associated with quadrupedal locomotion. Method: A case series. Results: All four patients carry the private missense mutation, WDR81 p.P856L. The brain Magnetic Resonance Imaging (MRI) of these patients revealed morphological abnormalities including mild hypoplasia of the corpus callosum, and atrophy of superior, middle, and inferior peduncles of the cerebellum. All patients had down-beat nystagmus, while two male patients additionally had bilateral temporal disc pallor along with ring-shaped macular atrophy. Conclusions: The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients. It remains to be determined whether these findings are consistent in other forms of CAMRQ with mutations in VLDLR or CA8. © 2012 Informa Healthcare USA, Inc.
      Keywords
      Cerebellar ataxia
      Dysequilibrium syndrome (CAMRQ)
      Mental retardation
      Neuro-ophthalmologic findings
      Quadrupedal locomotion
      adult
      article
      ataxia
      case report
      cerebellar ataxia
      cerebellum atrophy
      color vision
      dysmetria
      eye disease
      female
      gait disorder
      gene mutation
      human
      hypoplasia
      male
      mental deficiency
      missense mutation
      mixed hearing loss
      neurologic disease
      nuclear magnetic resonance
      nystagmus
      ophthalmoscopy
      priority journal
      retina macula degeneration
      snellen chart
      temporal disc pallor
      Adult
      Agenesis of Corpus Callosum
      Atrophy
      Cerebellar Ataxia
      Cerebellum
      Family
      Female
      Humans
      Intellectual Disability
      Magnetic Resonance Imaging
      Male
      Mutation, Missense
      Nystagmus, Pathologic
      Optic Atrophy
      Pedigree
      Young Adult
      Permalink
      http://hdl.handle.net/11693/21240
      Published Version (Please cite this version)
      http://dx.doi.org/10.3109/13816810.2012.689412
      Collections
      • Department of Molecular Biology and Genetics 426
      • Institute of Materials Science and Nanotechnology (UNAM) 1775
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