Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy

Clinical Features

Hudson and Munoz (1997) reported a family with an autosomal dominant neurologic syndrome affecting 7 members over 2 generations. The mother and 6 of her 11 offspring had congenital cataracts. Several members had impaired intellect, and 1 was severely mentally retarded. All members developed dementia or psychosis later in life (most in the fifth decade), with personality changes and emotional instability. Variable neurologic findings included dysphagia, nystagmus, abnormal gait, and abnormal involuntary movements. Postmortem brain examination of 2 patients showed severe neuronal loss in the hippocampal dentate gyrus and widespread alpha-B-crystallin (CRYAB; 123590) expression in oligodendrocytes. The basal ganglia showed only mild histologic changes. Analysis of the CRYAB gene showed no mutations.

Hudson and Munoz (2003) noted that adult neurogenesis occurs in the dentate gyrus of the hippocampus and that astrocytes play a role in the process. They hypothesized that the disorder reported by Hudson and Munoz (1997) resulted from a failure of neurogenesis and possible defects in glial cells.