De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description by N. I. Shova, V. A. Mikhailov, G. D. Romanyugo

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Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease by Federica Graziola, Federica Rachele Danti, Martina Penzo, Antonio Spagarino, Eleonora Minacapilli, Marco Moscatelli, Federica Zibordi, Caterina Mariotti, Giovanna Zorzi, Giovanna Zorzi

“…No significant biochemical alterations consistent with GLUT1DS were detected.ConclusionOur findings confirm localized cerebral hypometabolism in the basal ganglia of PHD patients, consistent with previous neuropathological reports. …”
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