Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome

T. L. Jernigan and U. Bellugi
San Diego (Calif) Veterans Administration Medical Center, La Jolla.

Quantitative studies of brain morphology in a group of subjects with Williams syndrome revealed a distinctive pattern of dysmorphology unlike that observed in another form of mental retardation. Down syndrome. Reduced cerebral size but normal cerebellar size was observed in Williams syndrome, in contrast to reductions in both brain components in Down syndrome. Examination of cerebellar vermal morphology suggested significantly increased area of neocerebellar vermal lobules in Williams syndrome, with low-normal size in the paleocerebellar vermal lobules. Thus, a highly selective effect on brain development appears to accompany Williams syndrome, with some brain subsystems, possibly later-developing ones, relatively spared.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Defects in Embryonic Neurogenesis and Initial Synapse Formation in the Forebrain of the Ts65Dn Mouse Model of Down Syndrome
Chakrabarti et al.
J. Neurosci. 2007;27:11483-11495.
ABSTRACT | FULL TEXT  

Long-Term Neuromotor Speech Deficits in Survivors of Childhood Posterior Fossa Tumors: Effects of Tumor Type, Radiation, Age at Diagnosis, and Survival Years
Huber et al.
J Child Neurol 2007;22:848-854.
ABSTRACT  

Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice
Olson et al.
Hum Mol Genet 2007;16:774-782.
ABSTRACT | FULL TEXT  

An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes
O'Doherty et al.
Science 2005;309:2033-2037.
ABSTRACT | FULL TEXT  

Williams Syndrome: Neuronal Size and Neuronal-Packing Density in Primary Visual Cortex
Galaburda et al.
Arch Neurol 2002;59:1461-1467.
ABSTRACT | FULL TEXT  

Relation of Medial Temporal Lobe Volumes to Age and Memory Function in Nondemented Adults With Down's Syndrome: Implications for the Prodromal Phase of Alzheimer's Disease
Krasuski et al.
Am. J. Psychiatry 2002;159:74-81.
ABSTRACT | FULL TEXT  

Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder
Kaplan et al.
J Child Neurol 2001;16:177-190.
 

Phonological grouping is specifically affected in cerebellar patients: a verbal fluency study
Leggio et al.
J. Neurol. Neurosurg. Psychiatry 2000;69:102-106.
ABSTRACT | FULL TEXT  

Neuroanatomy of Williams Syndrome: A High-Resolution MRI Study
Reiss et al.
J. Cogn. Neurosci. 2000;12:65S-73.
ABSTRACT | FULL TEXT  

Multi-Level Analysis of Cortical Neuroanatomy in Williams Syndrome
Galaburda and Bellugi
J. Cogn. Neurosci. 2000;12:74S-88.
ABSTRACT | FULL TEXT  

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse
Baxter et al.
Hum Mol Genet 2000;9:195-202.
ABSTRACT | FULL TEXT  

Chiari I Malformation: Association With Seizures and Developmental Disabilities
Brill et al.
J Child Neurol 1997;12:101-106.
ABSTRACT