Article
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions.
Acta neuropathologica - 1 Mar 2011
Cohen Nicola R, Hammans Simon R, Macpherson James, Nicoll James A R
Abstract excerpt
Unverricht-Lundborg disease (EPM1A), also known as Baltic myoclonus, is the most common form of progressive myoclonic epilepsy. It is inherited as an autosomal recessive trait, due to mutations in the Cystatin-B gene promoter region. Although there is much work on rodent models of this disease, there is very little published neuropathology in patients with EPM1A. Here, we present the neuropathology of a patient...
Topics
- Aged
- Antigens, CD
- Antigens, Differentiation, Myelomonocytic
- Atrophy
- Cystatin B
- DNA-Binding Proteins
- Fatal Outcome
- Female
- Humans
- Inclusion Bodies
- Intranuclear Inclusion Bodies
- Mutation
- Neurons
- RNA-Binding Protein FUS
- Unverricht-Lundborg Syndrome