Show simple item record

dc.contributor.authorSarac O.en_US
dc.contributor.authorGulsuner, S.en_US
dc.contributor.authorYildiz-Tasci, Y.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorKansu, T.en_US
dc.date.accessioned2016-02-08T09:43:33Z
dc.date.available2016-02-08T09:43:33Z
dc.date.issued2012en_US
dc.identifier.issn13816810
dc.identifier.urihttp://hdl.handle.net/11693/21240
dc.description.abstractPurpose: 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.en_US
dc.language.isoEnglishen_US
dc.source.titleOphthalmic Geneticsen_US
dc.relation.isversionofhttp://dx.doi.org/10.3109/13816810.2012.689412en_US
dc.subjectCerebellar ataxiaen_US
dc.subjectDysequilibrium syndrome (CAMRQ)en_US
dc.subjectMental retardationen_US
dc.subjectNeuro-ophthalmologic findingsen_US
dc.subjectQuadrupedal locomotionen_US
dc.subjectadulten_US
dc.subjectarticleen_US
dc.subjectataxiaen_US
dc.subjectcase reporten_US
dc.subjectcerebellar ataxiaen_US
dc.subjectcerebellum atrophyen_US
dc.subjectcolor visionen_US
dc.subjectdysmetriaen_US
dc.subjecteye diseaseen_US
dc.subjectfemaleen_US
dc.subjectgait disorderen_US
dc.subjectgene mutationen_US
dc.subjecthumanen_US
dc.subjecthypoplasiaen_US
dc.subjectmaleen_US
dc.subjectmental deficiencyen_US
dc.subjectmissense mutationen_US
dc.subjectmixed hearing lossen_US
dc.subjectneurologic diseaseen_US
dc.subjectnuclear magnetic resonanceen_US
dc.subjectnystagmusen_US
dc.subjectophthalmoscopyen_US
dc.subjectpriority journalen_US
dc.subjectretina macula degenerationen_US
dc.subjectsnellen charten_US
dc.subjecttemporal disc palloren_US
dc.subjectAdulten_US
dc.subjectAgenesis of Corpus Callosumen_US
dc.subjectAtrophyen_US
dc.subjectCerebellar Ataxiaen_US
dc.subjectCerebellumen_US
dc.subjectFamilyen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectIntellectual Disabilityen_US
dc.subjectMagnetic Resonance Imagingen_US
dc.subjectMaleen_US
dc.subjectMutation, Missenseen_US
dc.subjectNystagmus, Pathologicen_US
dc.subjectOptic Atrophyen_US
dc.subjectPedigreeen_US
dc.subjectYoung Adulten_US
dc.titleNeuro-ophthalmologic findings in humans with quadrupedal locomotionen_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentInstitute of Materials Science and Nanotechnology (UNAM)en_US
dc.citation.spage249en_US
dc.citation.epage252en_US
dc.citation.volumeNumber33en_US
dc.citation.issueNumber4en_US
dc.identifier.doi10.3109/13816810.2012.689412en_US


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record