Neuroradiology and clinical aspects of Usher syndrome

Clin Genet. 1996 Sep;50(3):126-32. doi: 10.1111/j.1399-0004.1996.tb02366.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Adult
  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Child, Preschool
  • Female
  • Hearing Loss, Sensorineural / pathology
  • Hearing Loss, Sensorineural / physiopathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neurologic Examination
  • Pedigree
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology*