Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome

Abstract excerpt

Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alzheimer's disease research and treatments
• Share to Neurological diseases and metabolism
• Share to Parkinson's Disease Mechanisms and Treatments