Mesial Temporal Lobe Abnormalities in a Family With 15q26qter Trisomy

Kobayashi, Eliane; Facchin, Daniela; Steiner, Carlos Eduardo; Leone, Andrea A. A.; Campos, Nilma L. V.; Cendes, Fernando; Lopes-Cendes, Íscia

doi:10.1001/archneur.59.9.1476

Cited by 8 publications

(8 citation statements)

References 9 publications

(8 reference statements)

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“…Magnetic resonance imagings were performed in a 2-T scanner including thin (1–3 mm) coronal T 1 -weighted images and T 2 -weighted coronal images, perpendicular to long axis of the hippocampal formation as described in Cendes et al (1998) and Kobayashi et al (2001, 2002). …”

Section: Methodsmentioning

confidence: 99%

“…Prior to genetic analysis, family members were classified into three phenotypic classes according to MRI findings: (1) affected : individuals with HAb detected by MRI, defined as: (i) HA, (ii) hyperintense T2 signal, (iii) abnormal shape or axis of the hippocampus, or (iv) any combination of these three findings (Kobayashi et al, 2002); (2) unaffected : individuals with no HAb detected by MRI; (3) unknown : individuals with no MRI information. Previous to enrollment, all family members provided informed consent which was approved by the Research Ethics Committee of our Institution.…”

Section: Methodsmentioning

confidence: 99%

“…We have described previously clinical and imaging features of a type of MTLE associated with HA, showing familial recurrence and low frequency of febrile seizures (Kobayashi et al, 2001, 2002, 2003). Most affected individuals in familial MTLE have a mild phenotype with a benign form of MTLE (Kobayashi et al, 2001).…”

Section: Introductionmentioning

confidence: 96%

“…Most affected individuals in familial MTLE have a mild phenotype with a benign form of MTLE (Kobayashi et al, 2001). HA with or without hyperintense T2 signal on MRI was observed in most patients, including those with a single focal seizure, seizure remission (Kobayashi et al, 2003) as well as in 34% of asymptomatic first-degree relatives of patients with familial MTLE (Kobayashi et al, 2002). These reports suggest that hippocampal abnormalities (HAb) identified by MRI in familial MTLE have a genetic predisposition and it is not necessarily associated to seizures in all patients (Kobayashi et al, 2001; Coan et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

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A Locus Identified on Chromosome18P11.31 is Associated with Hippocampal Abnormalities in a Family with Mesial Temporal Lobe Epilepsy

Maurer-Morelli¹,

Secolin²,

Morita³

et al. 2012

Front. Neur.

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We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb) in a family with mesial temporal lobe epilepsy (MTLE). Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ∼12 cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6-cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

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A Locus Identified on Chromosome18P11.31 is Associated with Hippocampal Abnormalities in a Family with Mesial Temporal Lobe Epilepsy

Maurer-Morelli¹,

Secolin²,

Morita³

et al. 2012

Front. Neur.

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“…fusiform and parahippocampal gyri, hippocampus, etc.) (Kobayashi, Facchin et al 2002), whereas a 5p anomaly is associated with periventricular heterotopia (Sheen, Wheless et al 2003). ASD risk gene MET (specifically, the “C” variant of rs1858830 promoter allele) has been shown to predict lower fractional anisotropy in major tracts of the temporal-parietal-occipital lobes, such as the superior and inferior longitudinal fasciculus, cingulum, and the splenium of the corpus callosum (Rudie, Hernandez et al 2012).…”

Section: Sex Differences In the Neurogenetics Of Autismmentioning

confidence: 99%

Developmental neurogenetics and multimodal neuroimaging of sex differences in autism

Chen

Horn

2016

Brain Imaging and Behavior

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Examining sex differences in the brain has been contentious but is nonetheless important for advancing mental health for both girls and boys. Unfortunately, females in biomedical research remain underrepresented in most mental health conditions including autism spectrum disorders (ASD), even though equal inclusion of females would improve treatment for girls and yield benefits to boys. This review examines sex differences in the relationship between neuroanatomy and neurogenetics of ASD. Recent findings reveal that girls diagnosed with ASD exhibit more intellectual and behavioral problems compared to their male counterparts, suggesting that girls may be less likely diagnosed in the absence of such problems or that they require a higher mutational load to meet the diagnostic criteria. Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD. The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. These sex-related genetic factors may drive sex differences in the neuroanatomy of these girls and boys, including abnormal enlargement in temporal gray and white matter volumes, and atypical reduction in cerebellar gray matter volumes and corpus callosum fibers projecting to the anterior frontal cortex in ASD girls relative to boys. Such factors may also be responsible for the attenuation of brain sexual differentiation in adult men and women with ASD; however, much remains to be uncovered or replicated. Future research should leverage further the association between neuroanatomy and genetics in girls for an integrated and interdisciplinary understanding of ASD.

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