RT Journal Article
SR Electronic
T1 Measures of growth in children at risk for Huntington disease
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 668
OP 674
DO 10.1212/WNL.0b013e3182648b65
VO 79
IS 7
A1 Jessica K. Lee
A1 Kathy Mathews
A1 Bradley Schlaggar
A1 Joel Perlmutter
A1 Jane S. Paulsen
A1 Eric Epping
A1 Leon Burmeister
A1 Peg Nopoulos
YR 2012
UL http://n.neurology.org/content/79/7/668.abstract
AB Objective: The effect of mHTT on human development was examined by evaluating measures of growth in children at risk for Huntington disease (HD). Methods: Children at risk for HD with no manifest symptoms (no juvenile HD included) were enrolled and tested for gene expansion for research purposes only. Measurements of growth (height, weight, body mass index [BMI], and head circumference) in children tested as gene-expanded (n = 20, 7–18 years of age, CAG repeats ≥39) were compared to those of a large database of healthy children (n = 152, 7–18 years of age). Results: Gene-expanded children had significantly lower measures of head circumference, weight, and BMI. Head circumference was abnormally low even after correcting for height, suggesting a specific deficit in brain growth, rather than a global growth abnormality. Conclusions: These results indicate that, compared to a control population, children who were estimated to be decades from HD diagnosis have significant differences in growth. Further, they suggest that mHTT may play a role in atypical somatic, and in particular, brain development. BMI=body mass index; CC=combined control; HD=Huntington disease; ICV=intracranial volume; preHD=prediagnostic stage of HD