Tamayo M L, Maldonado C, Plaza S L, Alvira G M, Tamayo G E, Zambrano M, Frias J L, Bernal J E
Instituto de Genética Humana, Facultad de Medicina, Universidad Javeriana, Bogotá, Colombia.
Clin Genet. 1996 Sep;50(3):126-32. doi: 10.1111/j.1399-0004.1996.tb02366.x.
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.
