Neuroanatomy in Rett syndrome: Cerebral cortex and posterior fossa

Baskaran Subramaniam, Sakkubai Naidu, Allan L. Reiss

Research output: Contribution to journalArticlepeer-review

99 Scopus citations


Rett syndrome (RS), a neurodevelopmental disorder of unknown etiology occurring almost exclusively in females, is characterized by autistic-like behavior, motor dysfunction, loss of language skills, dementia, and microcephaly. This study is a follow-up and extension of a previously reported neuroimaging study of patients with RS. We replicated previously reported findings with a larger patient population, and the volumetric MRI analysis was extended to include an analysis of neuroanatomy of the posterior fossa. Twenty girls with RS were compared with individually age- and gender- matched normal controls. Patients with RS showed global reduction in gray- and white-matter volumes. The prefrontal, posterior-frontal, and anterior- temporal regions showed the largest bilateral decrease in gray-matter volume, whereas white-matter volume was uniformly reduced throughout the brain. We found confirmation for the preferential reduction in caudate nucleus volume. However, we observed no preferential reduction in midbrain volume despite a preferential reduction in the midsagittal area of this region. We also present an individual case comparison between monozygotic twins discordant for RS.

Original languageEnglish (US)
Pages (from-to)399-407
Number of pages9
Issue number2
StatePublished - Feb 1997

ASJC Scopus subject areas

  • Clinical Neurology


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