title: Neuroradiology and clinical aspects of Usher syndrome.
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.
authors.affiliation: Instituto de Genética Humana, Facultad de Medicina, Universidad Javeriana, Bogotá, Colombia.
authors.forename: M L
authors.initials: ML
authors.lastname: Tamayo
authors.forename: C
authors.initials: C
authors.lastname: Maldonado
authors.forename: S L
authors.initials: SL
authors.lastname: Plaza
authors.forename: G M
authors.initials: GM
authors.lastname: Alvira
authors.forename: G E
authors.initials: GE
authors.lastname: Tamayo
authors.forename: M
authors.initials: M
authors.lastname: Zambrano
authors.forename: J L
authors.initials: JL
authors.lastname: Frias
authors.forename: J E
authors.initials: JE
authors.lastname: Bernal
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000473:pathology / Q000503:physiopathology*