Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization.
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.
Schönberger
Anna
A
Departments of Neuropathology, University of Bonn, Bonn, Germany.
Niehusmann
Pitt
P
Urbach
Horst
H
Majores
Michael
M
Grote
Alexander
A
Holthausen
Hans
H
Blümcke
Ingmar
I
Deckert
Martina
M
Becker
Albert J
AJ
D000293:Adolescent; D000483:Alleles; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011110:Polymorphism, Genetic; D011379:Prognosis; D012640:Seizures / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins