Analysis of chromosomal instability in focal cortical dysplasia of Taylor's balloon cell type

Acta Neuropathologica
Jana FassunkeAlbert Becker

Abstract

Focal cortical dysplasias (FCD) represent a frequent finding in patients with chronic intractable epilepsy. Neuropathological hallmarks include localized dyslamination of the neocortex and neuronal heterotopias in white matter. Balloon cells, similar to those occurring in cortical tubers of patients with tuberous sclerosis (TSC) are observed in numerous patients. These lesions were classified as FCD type IIb (FCD IIb). Recent findings indicate an accumulation of TSC1 polymorphisms as well as loss of heterozygosity (LOH) and/or microsatellite instability (MSI) at the TSC1 locus on chromosome 9q in FCD IIb. Here, we tested the hypothesis of whether chromosomal instability constitutes a genome-wide phenomenon in this patient cohort. Seven microsatellite markers based on a reference panel recommended by the international workshop on microsatellite instability were analyzed in 14 surgical FCD IIb specimens. DNA from single laser-microdissected cells, i.e., balloon cells versus control neurons obtained from adjacent cortex was harvested for PCR amplification and subsequent fluorescent fragment length gel electrophoresis. Our analysis revealed only rare instances of LOH and MSI at genomic loci on 2p and 17q, whereas no alterations wer...Continue Reading

Citations

Feb 8, 2006·Neurosurgical Focus·Vincent Y WangNicholas M Barbaro
Feb 25, 2014·Epilepsy Research·Ji Yeoun LeeSeung-Ki Kim
Feb 8, 2006·Journal of Neuropathology and Experimental Neurology·Albert J BeckerMichael Majores
Mar 14, 2020·PloS One·Elena Díaz-CasadoDolores E López
Nov 7, 2015·Molecular Brain·Jeffrey J MoffatWoo-Yang Kim
Jul 27, 2005·Journal of Neuropathology and Experimental Neurology·Michael MajoresAlbert J Becker
Aug 9, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Alican Tahta, Mehmet Turgut
Jul 31, 2012·Polish journal of radiology·Joanna Kabat, Przemysław Król

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