Publications by authors named "Elizabeth M Eultgen"
GABAergic interneuron deficits have been implicated in the epileptogenesis of multiple neurological diseases. While epileptic seizures are a key clinical hallmark of CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), the etiology of these seizures remains elusive. Given that mice display fatal spontaneous seizures and an early loss of several cortical interneuron populations, we hypothesized that those two events might be causally related.
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on understanding the neurological and pathological changes in Cln2R207X mice, which model a mutation related to CLN2 disease, revealing progressive seizures and neuron loss over time.
- Early signs of brain inflammation, such as microglial activation and astrogliosis, were observed before the loss of neurons, indicating a critical timeline in the disease's progression that differs from other forms of neuronal ceroid lipofuscinosis.
- Gene therapy using adeno-associated virus serotype 9 improved symptoms and pathology in the mice, highlighting the need for effective measures to evaluate therapies for CLN2 disease.
CLN1 disease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal storage disorder resulting from mutations in the CLN1 gene encoding the soluble lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). Therapies for CLN1 disease have proven challenging because of the aggressive disease course and the need to treat widespread areas of the brain and spinal cord. Indeed, gene therapy has proven less effective for CLN1 disease than for other similar lysosomal enzyme deficiencies.
View Article and Find Full Text PDF