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IMAGE: Associate professor of pediatrics, human genetics and neurology, University of Pittsburgh School of Medicine. view more
Credit: UPMC
PITTSBURGH, May 7, 2021 - In a paper published today in
Nature Communications, an international group of collaborators led by researchers at UPMC Children s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.
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Waldemar Nowak, MD, a board-certified neurologist and clinical neurophysiologist, has joined the Edward Neurosciences Institute.
Dr. Nowak is accepting new patients at the Edward Neurosciences offices at 24600 W. 127th St., Suite 205 in Plainfield and 6701 U.S. Highway 34 in Oswego. To schedule an appointment, visit EEHealth.org/find-a-doctor or call (779) 263-9120.
Dr. Nowak, a member of the American Academy of Neurology, received his medical degree at Medical University of Lublin in Lublin, Poland. He completed his internship, residency and fellowship at the University of Iowa Hospitals and Clinics.
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Dr. Nowak s clinical interests include Alzheimer s, carpal tunnel syndrome, double vision, epilepsy, facial pain, headaches, Parkinson s disease, peripheral nervous system, seizure disorders and sleep disorders.
Norton Neuroscience Institute Cressman Parkinson’s and Movement Disorders Center is dedicated to offering diagnosis and the most advanced treatments for people with Parkinson’s disease. Paired with clinical care and treatment, support provided through a dedicated patient navigator, the Norton Neuroscience Institute Resource Center and a collection of specialized Parkinson’s disease support resources creates a comprehensive program designed to support the patient and their family
With treatment and support for the whole patient, not just the disease, Norton Neuroscience Institute is the choice of more patients for their neurological care than any other provider in Louisville or Southern Indiana.
Examples of axial FLAIR sequences from studies within dataset A. From left to right: a patient with a likely normal brain; a patient presenting an intraparenchymal hemorrhage within the right temporal lobe; a patient presenting an acute infarct of the inferior division of the right middle cerebral artery; and a patient with known neurocysticercosis presenting a rounded cystic lesion in the left middle frontal gyrus. Image courtesy of Radiological Society of North America
Childrenâs Hospital & Medical Center is also part of the nationwide study.
Pat Dettloff has struggled with epilepsy since his first big seizure â a grand mal â at age 4.
Medications worked and then didnât. In 2010, he underwent a temporal lobectomy â the removal of a portion of his brain â that is intended to reduce the seizures enough to allow medications to work again.
Pat Dettloff of Gordon, Nebraska, left, has been free of epileptic seizures for more than a year after having a laser ablation procedure at the Nebraska Medical Center. He had a follow-up appointment with Dr. Olga Taraschenko, director of the University of Nebraska Medical Centerâs comprehensive epilepsy program, earlier this month.