Neuroradiology and clinical aspects of Usher syndrome |
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| Authors: | Marta L. Tamayo Cesar Maldonado Silvia L. Plaza Gustavo M. Alvira Gustavo E. Tamayo Marta Zambrano Jaime L. Frias Jaime E. Bernal |
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| Affiliation: | Institute de Genética Humana, Facultad de Medicina, Universidad Javeriana;Institute Neurológico de Colombia;Fundación Oftalmológica Nacional;Fonoaudiologia Hospital San Ignacio, Bogotá, Colombia;Department of Pediatrics and Genetics, University ot Tampa, Florida, USA |
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| Abstract: | We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US 1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested. |
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| Keywords: | blindness CNS abnormalities deafness MRI abnormalities retinitis pigmentosa Usher syndrome Usher syndrome type I—Usher syndrome type II |
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