TY  - JOUR
PB  - Elsevier
EP  - 1301
VL  - 38
SN  - 0890-8567
SP  - 1294
Y1  - 1999///
A1  - Murphy, Declan G.
A1  - Mentis, Marc J.
A1  - Pietrini, Pietro
A1  - Grady, Cheryl L.
A1  - MOORE, CAROLINE j
A1  - Horwitz, Barry
A1  - HINTON, VERONICa
A1  - DOBKIN, CARL S.
A1  - Schapiro, Mark B.
A1  - Rapoport, Stanley I.
AV  - none
TI  - Premutation female carriers of fragile X syndrome: a pilot study on brain anatomy and metabolism
ID  - eprints3443
IS  - 10
UR  - http://doi.org/10.1097/00004583-199910000-00019
N2  - Objective

It was thought that premutation carriers of fragile X syndrome (FraX) have no neurobiological abnormalities, but there have been no quantitative studies of brain morphometry and metabolism. Thus the authors investigated brain structure and metabolism in premutation carriers of FraX.

Method

Eight normal IQ, healthy female premutation FraX carriers aged 39±9 years (mean ± SD) and 32 age-sex-handedness-matched controls (39 ± 10 years) were studied; in vivo brain morphometry was measured using volumetric magnetic resonance imaging, and regional cerebral metabolic rates for glucose were measured using positron emission tomography and (18F)-2-fluoro-2-deoxy-D-glucose.

Results

Compared with controls, FraX premutation carriers had a significant (1) decrease in volume of whole brain, and caudate and thalamic nuclei bilaterally; (2) increase in volume of hippocampus and peripheral CSF bilaterally, and third ventricle; (3) relative hypometabolism of right parietal, temporal, and occipital association areas; (4) bilateral relative hypermetabolism of hippocampus; (5) relative hypermetabolism of left cerebellum; and (6) difference in right-left asymmetry of the Wernicke and Broca language areas.

Conclusions

Premutation carriers of FraX, as defined by analysis of peripheral lymphocytes, have abnormalities in brain anatomy and metabolism. The biological basis for this is unknown, but most likely it includes tissue heterogeneity for mutation status. The findings may be of relevance to people counseling families with FraX and to understanding other neuropsychiatric disorders which are associated with expansion of triplet repeats and genetic anticipation.
JF  - Journal of the American Academy of Child and Adolescent Psychiatry
ER  -