PT  - JOURNAL ARTICLE
AU  - Jessica K. Lee
AU  - Kathy Mathews
AU  - Bradley Schlaggar
AU  - Joel Perlmutter
AU  - Jane S. Paulsen
AU  - Eric Epping
AU  - Leon Burmeister
AU  - Peg Nopoulos
TI  - Measures of growth in children at risk for Huntington disease
AID  - 10.1212/WNL.0b013e3182648b65
DP  - 2012 Aug 14
TA  - Neurology
PG  - 668--674
VI  - 79
IP  - 7
4099  - http://n.neurology.org/content/79/7/668.short
4100  - http://n.neurology.org/content/79/7/668.full
SO  - Neurology2012 Aug 14; 79
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