Article
Phenotypic variation of autosomal-dominant corticobasal degeneration.
European neurology - 1 Jan 2012
Jung Hans H, Bremer Juliane, Streffer Johannes, Virdee Kanwar, Spillantini Maria Grazia, Crowther R Anthony, Brugger Peter, Van Broeckhoven Christine, Aguzzi Adriano, Tolnay Markus
Abstract excerpt
Neurodegenerative tauopathies may be inherited as autosomal-dominant disorders with variable clinicopathological phenotypes, and causative mutations in the microtubule-associated protein tau (MAPT) gene are not regularly seen. Herein, we describe a patient with clinically typical and autopsy-proven corticobasal degeneration (CBD). Her mother was diagnosed to have Parkinson's disease, but autopsy showed CBD...
Topics
- Aphasia, Primary Progressive
- Basal Ganglia Diseases
- Brain
- Female
- Humans
- Middle Aged
- Nerve Degeneration
- Neurologic Examination
- Neuropsychological Tests
- Pedigree
- Phenotype
- Supranuclear Palsy, Progressive
- Tauopathies