AANS Neurosurgeon | Volume 27, Number 3, 2018


JAMA Study, Clinical Trials Offer Fresh Hope for Kids With Rare Brain Disease

Anna Gunby cannot run around as smoothly as most 4-year-olds because her wobbly legs are affected by a rare brain disease that also hinders her intellect. She cannot identify colors. She cannot count objects. Her attention span is short. “But there’s definitely hope,” said Anna’s mother, Courtney Gunby. “Maybe one day she’ll be able to live on her own, operate a vehicle or go swimming by herself. There’s hope that she could have some sense of normalcy to her life.” A study led by investigators in UT Southwestern’s Peter O’Donnell Jr. Brain Institute offers novel insight into how a newly designed diet can help children like Anna cope with Glut1 deficiency – a rare disease that severely inhibits learning and muscle control by starving the brain of glucose, its main energy source. And scientists are already beginning to expand on the findings by testing an edible oil that smaller studies indicate can improve cognitive abilities in patients.

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