Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Neurology
; 53(9): 2190-2, 1999 Dec 10.
Article
en En
| MEDLINE
| ID: mdl-10599806
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.
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Bases de datos:
MEDLINE
Asunto principal:
Degeneraciones Espinocerebelosas
/
Aberraciones Cromosómicas
/
Sordera
/
Genes Dominantes
/
Narcolepsia
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Año:
1999
Tipo del documento:
Article
País de afiliación:
Suecia