Event Video with Host Donny Deutch
There are over 10 different forms of neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, and they collectively encompass the most common inherited form of childhood-onset neurodegeneration, with an estimated US prevalence of one in 12,500.
• Batten disease is characterized by progressive visual failure with eventual blindness, seizures, cognitive and motor regression, and premature death.
• The average life span after onset of symptoms is 10-15 years.
• There is no effective treatment or cure for any form of NCL, other than management of symptoms. Several clinical trials for the early onset forms are underway, but they are still in the very early stages of development.
• There is increasing evidence of overlap in the underlying biology of NCL and more common neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease. For instance, the Alzheimer’s gene presenilin-1 affects a pathway called autophagy, which processes and disposes of proteins in the cell, and is also affected in NCL. A new gene for NCL called ATP13A2 was previously found to cause a subset of inherited forms of Parkinson’s disease.
• The insights we learn from studying NCL can be applied to these more common neurogenerative diseases, and vice versa.
• At Massachusetts General Hospital and other centers, labs are working on developing IPS (induced pluripotent stem cell) models of NCL. This involves taking skin cells from an affected patient, reprogramming them in cell culture to an early, de-differentiated state, and then redifferentiating back to a cell type of interest such as a nerve cell. This technique allows us to study in cell culture what might be going wrong in the neurons that are affected in NCL. It also provides a tool for screening for drugs that may alter the neurodegenerative process. These approaches are very complementary to the animal models for NCL that are under active study.