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.
Tamayo
M L
ML
Instituto de Genética Humana, Facultad de Medicina, Universidad Javeriana, Bogotá, Colombia.
Maldonado
C
C
Plaza
S L
SL
Alvira
G M
GM
Tamayo
G E
GE
Zambrano
M
M
Frias
J L
JL
Bernal
J E
JE
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*