- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
- Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to
- Bourneville and Taylor: a developing story?
Table of Contents
1
UI - 12015165
AU - Yamamoto T; Pipo JR; Feng JH; Takeda H; Nanba E; Ninomiya H; Ohno K
TI -
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous
sclerosis complex.
SO - Brain Dev 2002 Jun;24(4):227-30
AD - Gene Research Center, Tottori University, Yonago 683-8503, Japan.
tyamamot@grape.med.tottori-u.ac.jp
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome
characterized by development of unusual tumor-like growths. Involvement
of the brain is associated with the most problematic clinical
manifestations of TSC, including intellectual retardation, epilepsy and
abnormal behaviors. Until now, over 300 mutations of TSC1 and TSC2 were
reported. Here, we report one novel mutation of TSC1 (Q897X) and five
novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K)
identified in Japanese patients with TSC. We also identified three new
polymorphisms in TSC2 (N331N, A431A, S802G). The TSC1 mutation was
predicted to cause a nonsense substitution whereas all of the five TSC2
mutations were predicted to cause either a splicing error or a missense
substitution. In accordance with previous findings, the patients with
TSC1 mutations had milder clinical manifestations than those with TSC2
mutations.
2
UI - 12112044
AU - Becker AJ; Urbach H; Scheffler B; Baden T; Normann S; Lahl R; Pannek HW;
TI -
Tuxhorn I; Elger CE; Schramm J; Wiestler OD; Blumcke I
Focal cortical dysplasia of Taylor's balloon cell type: mutational
analysis of the TSC1 gene indicates a pathogenic relationship to
tuberous sclerosis.
SO - Ann Neurol 2002 Jul;52(1):29-37
AD - Department of Neuropathology, FE Neuroradiology, University of Bonn
Medical Center, Bonn, Germany.
Focal cortical dysplasia (FCD) is characterized by a localized
malformation of the neocortex and underlying white matter. Balloon
cells, similar to those observed in tuberous sclerosis, are present in
many cases (FCD(bc)). In these patients, a hyperintense funnel-shaped
subcortical lesion tapering toward the lateral ventricle was the
characteristic finding on fluid-attenuated inversion recovery magnetic
resonance imaging scans. Surgical lesionectomy results in complete
seizure relief. Although the pathogenesis of FCD(bc) remains uncertain,
histopathological similarities indicate that FCD(bc) may be related
pathogenetically to tuberous sclerosis. Here, we studied alterations of
the TSC1 and TSC2 genes in a cohort of patients with chronic, focal
epilepsy and histologically documented FCD(bc) (n = 48). DNA was
obtained after microdissection and laser-assisted isolation of balloon
cells, dysplastic neurons, and nonlesional cells from adjacent normal
brain tissue. Sequence alterations resulting in amino acid exchange of
the TSC1 gene product affecting exons 5 and 17 and silent base exchanges
in exons 14 and 22 were increased in patients with FCD(bc) compared with
200 control individuals (exon 5, 2.3% FCD(bc) vs 0% C; exon 17, 35%
FCD(bc) vs 1.0% C; exon 14, 37.8% FCD(bc) vs 15% C; exon 22, 45% FCD(bc)
vs 23.8% C). Sequence alterations could be detected in FCD(bc) and in
adjacent normal cells. In 24 patients, DNA was suitable to study loss of
heterozygosity at the TSC1 gene locus in microdissected FCD(bc) samples
compared with control tissue. Eleven FCD(bc) cases exhibited loss of
heterozygosity. In the TSC2 gene, only silent polymorphisms were
detected at similar frequencies as in controls. Our findings indicate
that FCD(bc) constitutes a clinicopathological entity with distinct
neuroradiological, neuropathological, and molecular genetic features.
These data also suggest a role of the TSC1 gene in the development of
FCD(bc) and point toward a pathogenic relationship between FCD(bc) and
the tuberous sclerosis complex.
3
UI - 12112041
AU - Crino PB
TI -
Bourneville and Taylor: a developing story?
SO - Ann Neurol 2002 Jul;52(1):6-9
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