by Nora Dunne
Northwestern Medicine scientists have found evidence of ALS-related deposits in the eyes of a patient for the first time, opening a new potential avenue for diagnosing and tracking the disease.
In ALS, proteins accumulate into clumps in the motor neurons of the brain and spinal cord. The neurons stop working and eventually die, causing muscle weakness and impaired speaking, swallowing, breathing and death.
In this study, scientists studied the retina of a patient with the most common genetic form of ALS. These investigations identified the same protein deposits in the retina of the patient that are usually found in the brain in this type of ALS.
“This connection was unexpected. Beyond causing eye movement difficulties, ALS has not previously been associated with any manifestations in the eye,” said Amani Fawzi, MD, associate professor in Ophthalmology, and first author of the new study, which was published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
Dr. Fawzi and Nicholas Volpe, MD, George W. and Edwina Tarry Professor and chairman of  Ophthalmology, collaborated with Teepu Siddique, MD, Les Turner ALS Foundation/Herbert C. Wenske Foundation Professor in the Ken and Ruth Davee Department of Neurology and Cell and Molecular Biology on this research.
The scientists initially detected ALS-related protein deposits in the retina of an ALS mouse model. This led them to study the retina tissue from a deceased human donor. Interestingly, the deposits found in this patient explained subtle vision deficiencies indicated in the patient’s medical records…..
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source: Northwestern University Feinberg School of Medicine