New Neurodegenerative Disease Defined

Degenerative diseases of the nervous system generally involve the accumulation of aggregates, or protein deposits, in the brain. A study led by Dr. Ronit Ilouz of the Azrieli Faculty of Medicine at Bar-Ilan University explored the mechanism leading to their accumulation.

The research team found that neurodegenerative diseases, including the infamous ALS and Parkinson’s diseases, have a common factor in the mechanism creating aggregates in the brain, which originates from a hereditary mutation.

Furthermore, the researchers defined a new neurodegenerative disease, discovered the mechanism by which aggregates are formed, and found a mechanism that prevents their accumulation.

The new disease is called NLPD-PKA, an abbreviation of ‘Neuronal Loss and Parkinsonism, driven by an inherited mutation in the Protein Kinase A’. Protein Kinase A (PKA) has many roles in the brain, such as learning, memory and motor skills. The activity of PKA is controlled in neurons by a regulatory unit called RIβ that binds to it and control it’s activity. A hereditary mutation, found in the gene coding for this regulatory unit, was found in patients of these diseases.

The patients displayed symptoms common to various neurodegenerative diseases. The similarity of the disease symptoms hinders the diagnosis: The patients are afflicted with the disease in their 40s, with symptoms such as slowness and instability in finger-to-mouth tasks, walking with a forward stoop, dementia and lack of planning reported by relatives and severe brain atrophy (tissue loss) revealed in MRI scans.

The research carried out in Dr. Ilouz’s laboratory is groundbreaking in several ways: The definition and naming of the new disease will prevent medical teams from confusing it with diseases having similar characteristics; the discovery of the mechanism leading to the neurodegenerative disease, and the understanding that the mechanism found in the new disease is similar to the one that exists in many neurodegenerative diseases originating from mutations genetics. The most exciting angle is that the researchers found a mechanism to slow down the formation of the aggregates, and stop the disease in the future.

Dr. Ilouz and her research partners are very excited about the findings and hope that this research will contribute to the development of new drugs and therapeutic approaches for many neurodegenerative diseases.