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16 results on '"Adam, Octavian R."'

11. Outcome Trends after US Military Concussive Traumatic Brain Injury

Author

Mac Donald, Christine L., primary, Johnson, Ann M., additional, Wierzechowski, Linda, additional, Kassner, Elizabeth, additional, Stewart, Theresa, additional, Nelson, Elliot C., additional, Werner, Nicole J., additional, Adam, Octavian R., additional, Rivet, Dennis J., additional, Flaherty, Stephen F., additional, Oh, John S., additional, Zonies, David, additional, Fang, Raymond, additional, and Brody, David L., additional

Published
2017
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13. Brain-Lung-Thyroid Disease

Author

Ferrara, Joseph M., primary, Adam, Octavian R., additional, Kirwin, Susan M., additional, Houghton, David J., additional, Shepherd, Casey, additional, Vinette, Kathy M. B., additional, and Litvan, Irene, additional

Published
2011
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16. Brain-Lung-Thyroid Disease: Clinical Features of a Kindred With a Novel Thyroid Transcription Factor 1 Mutation.

Author

Ferrara, Joseph M., Adam, Octavian R., Kirwin, Susan M., Houghton, David J., Shepherd, Casey, Vinette, Kathy M. B., and Litvan, Irene

Subjects
*JUVENILE diseases, *TRANSCRIPTION factors, *GENETIC mutation, *DOPAMINE receptors, *HUMAN chromosome abnormality diagnosis, *THERAPEUTICS
Abstract

Brain-lung-thyroid disease is a rare familial disorder caused by mutations in thyroid transcription factor 1, a gene that regulates neuronal migration. We report the clinical features of ten patients from a single family with a novel gene mutation, including observations regarding treatment. Neurologic features of the kindred included developmental delay, learning difficulties, psychosis, chorea, and dystonia. Three patients had a history of seizure, which has not been previously reported in genetically confirmed cases. Low-dose dopamine-receptor blocking drugs were poorly tolerated in 2 patients who received this therapy, levodopa improved chorea in 3 of 4 children, and diazepam was markedly effective in a single adult patient. Chorea related to brain-lung-thyroid disease appears to respond paradoxically to antidopaminergic drugs. The unusual therapeutic response seen in our patients and others may help elucidate how disease-related migratory deficits affect neural pathways associated with motor control. [ABSTRACT FROM PUBLISHER]

Published
2012
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