Neuro-ophthalmologic findings in humans with quadrupedal locomotion
dc.citation.epage | 252 | en_US |
dc.citation.issueNumber | 4 | en_US |
dc.citation.spage | 249 | en_US |
dc.citation.volumeNumber | 33 | en_US |
dc.contributor.author | Sarac O. | en_US |
dc.contributor.author | Gulsuner, S. | en_US |
dc.contributor.author | Yildiz-Tasci, Y. | en_US |
dc.contributor.author | Ozcelik, T. | en_US |
dc.contributor.author | Kansu, T. | en_US |
dc.date.accessioned | 2016-02-08T09:43:33Z | |
dc.date.available | 2016-02-08T09:43:33Z | |
dc.date.issued | 2012 | en_US |
dc.department | Department of Molecular Biology and Genetics | en_US |
dc.department | Institute of Materials Science and Nanotechnology (UNAM) | en_US |
dc.description.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. | en_US |
dc.description.provenance | Made available in DSpace on 2016-02-08T09:43:33Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2012 | en |
dc.identifier.doi | 10.3109/13816810.2012.689412 | en_US |
dc.identifier.issn | 13816810 | |
dc.identifier.uri | http://hdl.handle.net/11693/21240 | |
dc.language.iso | English | en_US |
dc.relation.isversionof | http://dx.doi.org/10.3109/13816810.2012.689412 | en_US |
dc.source.title | Ophthalmic Genetics | en_US |
dc.subject | Cerebellar ataxia | en_US |
dc.subject | Dysequilibrium syndrome (CAMRQ) | en_US |
dc.subject | Mental retardation | en_US |
dc.subject | Neuro-ophthalmologic findings | en_US |
dc.subject | Quadrupedal locomotion | en_US |
dc.subject | adult | en_US |
dc.subject | article | en_US |
dc.subject | ataxia | en_US |
dc.subject | case report | en_US |
dc.subject | cerebellar ataxia | en_US |
dc.subject | cerebellum atrophy | en_US |
dc.subject | color vision | en_US |
dc.subject | dysmetria | en_US |
dc.subject | eye disease | en_US |
dc.subject | female | en_US |
dc.subject | gait disorder | en_US |
dc.subject | gene mutation | en_US |
dc.subject | human | en_US |
dc.subject | hypoplasia | en_US |
dc.subject | male | en_US |
dc.subject | mental deficiency | en_US |
dc.subject | missense mutation | en_US |
dc.subject | mixed hearing loss | en_US |
dc.subject | neurologic disease | en_US |
dc.subject | nuclear magnetic resonance | en_US |
dc.subject | nystagmus | en_US |
dc.subject | ophthalmoscopy | en_US |
dc.subject | priority journal | en_US |
dc.subject | retina macula degeneration | en_US |
dc.subject | snellen chart | en_US |
dc.subject | temporal disc pallor | en_US |
dc.subject | Adult | en_US |
dc.subject | Agenesis of Corpus Callosum | en_US |
dc.subject | Atrophy | en_US |
dc.subject | Cerebellar Ataxia | en_US |
dc.subject | Cerebellum | en_US |
dc.subject | Family | en_US |
dc.subject | Female | en_US |
dc.subject | Humans | en_US |
dc.subject | Intellectual Disability | en_US |
dc.subject | Magnetic Resonance Imaging | en_US |
dc.subject | Male | en_US |
dc.subject | Mutation, Missense | en_US |
dc.subject | Nystagmus, Pathologic | en_US |
dc.subject | Optic Atrophy | en_US |
dc.subject | Pedigree | en_US |
dc.subject | Young Adult | en_US |
dc.title | Neuro-ophthalmologic findings in humans with quadrupedal locomotion | en_US |
dc.type | Article | en_US |
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