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Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization
Author(s) -
Schönberger Anna,
Niehusmann Pitt,
Urbach Horst,
Majores Michael,
Grote Alexander,
Holthausen Hans,
Blümcke Ingmar,
Deckert Martina,
Becker Albert J.
Publication year - 2009
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2009.01018.x
Subject(s) - tsc1 , tuberous sclerosis , tsc2 , exon , pathology , allele , medicine , biology , gene , pi3k/akt/mtor pathway , genetics , signal transduction
Focal cortical dysplasias with balloon cells (FCD IIb ) usually present with characteristic imaging and molecular features, that is, a transmantle sign on fluid‐attenuated inversion recovery MRI and abundance of allelic variants of the tuberous sclerosis gene 1 ( TSC1 ). Recently, we observed several mineralized lesions ( n = 5) lacking this MRI pattern and which surprisingly turned out as FCD IIb upon neuropathological examination. These mineralized FCD IIb revealed an increased frequency of TSC2 allelic variants but not TSC1 (intron 31: 60% vs. 11% in controls; P = 0.0164, exon 41: 40% vs. 6.5% in controls; P = 0.0441). Mineralized FCD IIb have a favorable postsurgical outcome and need consideration in the presurgical differential diagnosis of calcified lesions associated with pharmacoresistant focal epilepsies.