Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 10599806.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Four patients affected with autosomal dominant cerebellar ataxia, deafness, and narcolepsy underwent brain CT and MRI. Radiologic findings were supratentorial atrophy (more pronounced than infratentorial atrophy), pronounced dilatation of the third ventricle, low T2 signal intensity in the basal ganglia, loss of cerebral cortex-white matter differentiation, and periventricular high-signal rims. 2-[18F]Fluoro-2-deoxy-D-glucose PET was done with one patient, without specific findings. Genetic analyses excluded SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, DRPLA, and huntingtin gene mutations.
Medical subject headings
- Chromosome Aberrations
- Deafness
- Genes, Dominant
- Narcolepsy
- Spinocerebellar Degenerations