Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Open Access
- 1 December 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (12) , 884-885
- https://doi.org/10.1136/jmg.28.12.884
Abstract
Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.Keywords
This publication has 7 references indexed in Scilit:
- CATARACT, DEAFNESS, CEREBELLAR ATAXIA, PSYCHOSIS AND DEMENTIA-A NEW SYNDROMEActa Neurologica Scandinavica, 2009
- Ataxia-Deafness-Retardation Syndrome in Three SistersNeuropediatrics, 1987
- A New Familial Syndrome With Ataxia, Hearing Loss, and Mental RetardationArchives of Neurology, 1973
- A neuroectodermal syndrome of dominant inheritanceJournal of the Neurological Sciences, 1965
- [FAMILIAL SYNDROME COMBINING ATAXIA, DEAFNESS AND OLIGOPHRENIA. MYOCARDIAL SCLEROSIS WITH FATAL DEVELOPMENT IN ONE OF THE CHILDREN].1963
- Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.1950
- Hereditary Congenital Spinocerebellar Ataxia Accompanied by Congenital Cataract and OligophreniaStereotactic and Functional Neurosurgery, 1949