Genome wide association study of incomplete hippocampal inversion in adolescents

Cury, Claire; Scelsi, Marzia Antonella; Toro, Roberto; Frouin, Vincent; Artiges, Éric; Grigis, Antoine; Heinz, Andreas; Lemaître, Hervé; Martinot, Jean‐Luc; Poline, Jean‐Baptiste; Smolka, Michael N.; Walter, Henrik; Schumann, Günter; Altmann, André; Colliot, Olivier

doi:10.1371/journal.pone.0227355

Cited by 10 publications

(13 citation statements)

References 71 publications

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“…In adGTPCHD it was normal in six of eight patients and in the other two patients MRI revealed an isolated arachnoid cyst as an incidental finding or incomplete hippocampal inversion (without associated epilepsy). Incomplete hippocampal inversion is thought to result from incomplete development and is not unequivocally abnormal on its own since it is can be found in up to 26% of healthy subjects 21 . Both patients with arGTPCHD had isolated hyperintensity of central tegmental tracts.…”

Section: Resultsmentioning

confidence: 99%

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Hübschmann

Mohr

Friedman

et al. 2021

J of Inher Metab Disea

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Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs. 81 MRIs of 70 patients (0.1-52.9 years, 39 patients with tetrahydrobiopterin deficiencies, 31 with primary disorders of monoamine metabolism) were retrospectively analyzed and clinical records reviewed. 33/70 patients had MRI changes, most commonly atrophy (n = 24). Eight patients, six with dihydropteridine reductase deficiency (DHPR), had a common pattern of bilateral parieto-occipital and to a lesser extent frontal and/or cerebellar changes in arterial watershed zones. Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic L-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). Four patients had myelination delay (AADCD; THD); two had changes characteristic of postinfantile onset neuronal disease (AADCD, monoamine oxidase A deficiency), and nine T2-hyperintensity of central tegmental tracts. iMNDs are associated with MRI patterns consistent with chronic effects of a neuronal disorder and signs of repetitive injury to cerebral and cerebellar watershed areas, in particular in DHPRD. These will be helpful in the (neuroradiological) differential diagnosis of children with unknown disorders and monitoring of iMNDs. We hypothesize that deficiency of catecholamines and/or tetrahydrobiopterin increase the incidence of and the CNS susceptibility to vascular dysfunction.

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Section: Resultsmentioning

confidence: 99%

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Hübschmann

Mohr

Friedman

et al. 2021

J of Inher Metab Disea

View full text Add to dashboard Cite

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“…In a large study of 2008 participants (Cury et al 2015 ), the presence of this anatomical feature was visible in 17% of left hippocampus and 6% of right hippocampus. Cury et al ( 2020 ) replicated this result in PING, finding a similar incidence rate, as well as examined the genetic predictors. Incomplete hippocampal inversion has been associated with an increased risk of developing epilepsy (Gamss et al 2009 ; Caciagli et al 2019 ).…”

Section: Example Use Casesmentioning

confidence: 82%

Scan Once, Analyse Many: Using Large Open-Access Neuroimaging Datasets to Understand the Brain

Madan

2021

Neuroinform

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We are now in a time of readily available brain imaging data. Not only are researchers now sharing data more than ever before, but additionally large-scale data collecting initiatives are underway with the vision that many future researchers will use the data for secondary analyses. Here I provide an overview of available datasets and some example use cases. Example use cases include examining individual differences, more robust findings, reproducibility–both in public input data and availability as a replication sample, and methods development. I further discuss a variety of considerations associated with using existing data and the opportunities associated with large datasets. Suggestions for further readings on general neuroimaging and topic-specific discussions are also provided.

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“…The prevalence of HIMAL in the controls of the previous studies (18–24%) was somewhat lower than what we found and may be explained by methodological issues, such as different samples, MRI protocols, and different diagnostic criteria ( 2 , 19 ). A genome-wide association study on the genetics of HIMAL reported a positive correlation between the prevalence of HIMAL and intelligence/education attainment ( 20 ). Further is needed to better understand the significance of these findings.…”

Section: Discussionmentioning

confidence: 99%

“…Another study found no significant relationships between whole hippocampal volumes and HIMAL, while the HIMAL severity was related to hippocampal subfield volumes, most notably the CA1 ( 12 ). Others suggested that the hippocampal segmentation of HIMAL might be altered by the malrotated hippocampus, making volumetric analysis inaccurate ( 20 , 39 ). Because of these discrepancies, we did not compare the hippocampal subfield volumes among groups.…”

Section: Discussionmentioning

confidence: 99%

Hippocampal Malrotation Could Be Less Significant in Epilepsy Caused by Focal Cortical Dysplasia Type I and Type II

Chen

et al. 2022

Front. Neurol.

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ObjectivesDebates over the relationship between hippocampal malrotation (HIMAL) and epilepsy continue without consensus. This study explores the role of HIMAL in a cohort of epilepsy caused by focal cortical dysplasia (FCD).MethodsIn this study, 90 patients with epilepsy caused by FCD type I and type II and 48 healthy adults underwent a 3 Tesla MRI following a dedicated epilepsy protocol for the analysis of the prevalence and morphologic features of HIMAL. In addition, numerous clinical characteristics and hippocampal volumes were evaluated.ResultsThe cohort included a total of 90 patients (32 were HIMAL, 58 were non-HIMAL). Among these patients, 32 (35.6%) had HIMAL (22 left, four right, and six bilateral), which did not differ from the 48 controls, where 16 (33.3%) had HIMAL (12 left, two right, and two bilateral). Neither the quantitative features of HIMAL (diameter ratio, dominant inferior temporal sulcus height ratio, medial distance ratio, dominant inferior temporal sulcus angle, and parahippocampal angle), nor the accompanying characteristics of HIMAL (vertical dominant inferior temporal sulcus, enlarged temporal horn, and a low position of ipsilateral fornix) showed differences between patients with FCD and controls. No statistical difference in the clinical characteristics between FCD patients with HIMAL and those without was found. Neither the side nor the existence of HIMAL was correlated with the lateralization and location of FCD. As to the hippocampal volume, there was no difference between FCD patients with HIMAL and those without.ConclusionHippocampal malrotation is a common morphologic variant in healthy controls as well as in patients with epilepsy caused by FCD type I and type II. Hippocampal malrotation could be less significant in epilepsy caused by FCD type I and type II.

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Genome wide association study of incomplete hippocampal inversion in adolescents

Cited by 10 publications

References 71 publications

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Scan Once, Analyse Many: Using Large Open-Access Neuroimaging Datasets to Understand the Brain

Hippocampal Malrotation Could Be Less Significant in Epilepsy Caused by Focal Cortical Dysplasia Type I and Type II

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