Open AccessAbnormal brain development in child and adolescent carriers of mutant huntingtin
Author(s) -
Ellen van der Plas,
Douglas R. Langbehn,
Amy L. Conrad,
Timothy R. Koscik,
А.В. Терещенко,
Eric A. Epping,
Vincent A. Magnotta,
Peg Nopoulos
Publication year - 2019
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000008066
Subject(s) - huntingtin , age of onset , huntingtin protein , disease , medicine , biology , genetics , huntington's disease
The huntingtin gene is critical for the formation and differentiation of the CNS, which raises questions about the neurodevelopmental effect of CAG expansion mutations within this gene ( mHTT ) that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of mHTT exhibit different brain growth compared to peers without the mutation by conducting structural MRI in youth who are at risk for HD. We also explored whether the length of CAG expansion affects brain development.