Neuroradiology and clinical aspects of Usher syndrome

Clinical Genetics
M L TamayoJ E Bernal

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 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.

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Citations

Jan 11, 2011·Journal of Pediatric Ophthalmology and Strabismus·Tulay SimsekGamze Men
Nov 17, 2001·Annals of the New York Academy of Sciences·J C SunC I De Zeeuw
Dec 1, 1998·European Psychiatry : the Journal of the Association of European Psychiatrists·C McDonaldT Larkin
Nov 14, 2008·International Ophthalmology·Helin Deniz DemirHüseyin Yardim
Feb 13, 2001·Neurobiology of Disease·J C SunC I De Zeeuw
Nov 26, 2008·International Journal of Pediatric Otorhinolaryngology·M L TamayoD Medina

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