Transcriptomic profiling of human peritumoral neocortex tissues revealed genes possibly involved in tumor-induced epilepsy.

The molecular mechanism underlying tumor-induced epileptogenesis is poorly understood. Alterations in the peritumoral microenvironment are believed to play a significant role in inducing epileptogenesis. We hypothesize that the change of gene expression in brain peritumoral tissues may contribute to the increased neuronal excitability and epileptogenesis.

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

The pontocerebellar hypoplasias (PCH) are a group of early-onset, autosomal recessive disorders resulting in abnormal growth and function of the brainstem and cerebellum. PCH type 2 (PCH2) is characterized by respiratory and feeding difficulties at birth, extrapyramidal dyskinesia, severe developmental impairment, progressive microcephaly and frequent death in childhood. Neuropathologic findings include diffuse cerebral gliosis with white matter changes, hypoplastic pons with depletion of neurons in the pontine nuclei, hypoplastic cerebellar hemispheres due to short cerebellar folia with poor branching, segmental loss of dentate, inferior olivary, and ventral pontine nuclei, and near absence of transverse pontine fibers with preservation of long fiber tracts and spinal anterior horn cells.

Malformations of the posterior fossa: current perspectives.

Posterior fossa malformations are a special group of central nervous system anomalies that present during infancy with hypotonia, developmental delay, microcephaly, or hydrocephalus. Recent discoveries of the genetic and epigenetic factors that control hindbrain ontogenesis explain some of these disturbances in cerebellar development. A comprehensive classification of posterior fossa malformations is proposed with particular attention to Dandy-Walker malformation, Joubert syndrome, and other cerebellar hypoplasias.