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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Neuroradiology and clinical aspects of Usher syndrome.

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 US1 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.[1]


  1. Neuroradiology and clinical aspects of Usher syndrome. Tamayo, M.L., Maldonado, C., Plaza, S.L., Alvira, G.M., Tamayo, G.E., Zambrano, M., Frias, J.L., Bernal, J.E. Clin. Genet. (1996) [Pubmed]
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