From Beta-amyloids to Biomarkers: Uncovering the Link between Batten and Alzheimer’s Disease

Writers: Arvindh Krishna and Brianna Viets

Editor: Vijaya Varadarajan

Although Alzheimer’s disease is the main subject of this blog, there are many similar neurodegenerative diseases that consist of the same basis in which Alzheimer’s develops. One of them is Batten disease, and in this article, we will explore the biomechanics of this disease and how it is similar to Alzheimer's. We will also look into its biological connection to Alzheimer’s disease, and the potential treatment correlation with Batten disease.

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare and devastating neurodegenerative disorder that primarily affects children. It belongs to a group of genetic disorders characterized by the accumulation of lipopigments, or fatty substances, in the body's tissues. According to the National Organization for Rare Disorders, “The NCLs as a group are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body [1].” Batten disease manifests in a wide range of symptoms, including: progressive vision loss, seizures, cognitive decline, motor impairment, and premature death [2].

Batten disease is caused by mutations in specific genes that are responsible for the production of lysosomal enzymes, impairing the cells' ability to break down and recycle waste materials. The resulting accumulation of lipopigments leads to the progressive degeneration of neurons in the brain and other organs. Batten disease currently has no cure, but ongoing research focuses on finding drugs that can slow down neurodegeneration and improve the quality of life for those affected. Symptomatic treatments like antiepileptic drugs are used to manage seizures, while supportive care and multidisciplinary interventions help address the complex needs of individuals with this disease [3].

Figure 1: MRI Scan of the brain T1-weighted (T1w) and T2-weighted (T2w) at 12-months-of-age (top left) and 17-months (top right), and a wild type (WT) comparator (bottom).

When exploring the connections between Alzheimer’s and Batten disease, it has been discovered that both are progressive neurodegenerative disorders that cause problems with cognitive functions and memory. Although most patients diagnosed with Alzheimer’s disease are over the age of 65, Batten disease targets pediatric individuals and symptoms typically start showing around the ages between 5–10 years old—unless a child has an infantile case [4]. Despite the differences in the diagnosis of the diseases based on age, these two disorders exhibit signs of dementia, which is the loss of mental skill sets that are necessary to perform basic activities on a daily basis. Impacted individuals with forms of dementia may express difficulties related to communicating with others, remembering previously known information, controlling their coordination, organizing plans, and completing simple tasks. 

Researchers have been on the journey of uncovering treatments that will lessen the symptoms from these two diseases; however, there are few new treatments designed to specifically help with Batten disease. Some different treatments have consisted of implementing the use of certain medications, gene therapy to remove mutated genes, and stem cell transplants [5]. These methods may not fully cure Batten disease, but they are able to help reduce the symptoms that negatively impact affected patients. Although there are currently multiple gaps regarding the relationship between Alzheimer’s and Batten disease, future research will hopefully advance our knowledge on understanding their connection and aid in developing effective treatments to cure the two.