Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- 1 December 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 53 (9) , 2190
- https://doi.org/10.1212/wnl.53.9.2190
Abstract
Article 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.Keywords
This publication has 9 references indexed in Scilit:
- Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph DiseaseArchives of Neurology, 1998
- Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?Annals of Neurology, 1997
- MRI of the brain in neurologically healthy middle-aged and elderly individualsNeuroradiology, 1997
- Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindredsAnnals of Neurology, 1997
- Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3Brain, 1996
- Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusionsAnnals of Neurology, 1996
- Autosomal dominant cerebellar ataxia deafness and narcolepsyJournal of the Neurological Sciences, 1995
- The normal brain stem from infancy to old ageNeuroradiology, 1994
- Study of movement disorders and brain iron by MRAmerican Journal of Roentgenology, 1987