Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes.

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A Mini-Review of fMRI Studies of Human Medial Temporal Lobe Activity Associated with Recognition Memory

The Quarterly Journal of Experimental Psychology Section B ◽

10.1080/02724990444000113 ◽

2005 ◽

Vol 58 (3-4b) ◽

pp. 340-360 ◽

Cited By ~ 118

Author(s):

Richard Henson

Keyword(s):

Recognition Memory ◽

Medial Temporal Lobe ◽

Spatial Information ◽

Functional Magnetic Resonance ◽

Resonance Imaging ◽

Source Information ◽

Medial Temporal Lobes ◽

Future Directions ◽

Temporal Lobes ◽

Anterior Posterior

This review considers event-related functional magnetic resonance imaging (fMRI) studies of human recognition memory that have or have not reported activations within the medial temporal lobes (MTL). For comparisons both between items at study (encoding) and between items at test (recognition), MTL activations are characterized as left/right, anterior/posterior, and hippocampus/surrounding cortex, and as a function of the stimulus material and relevance of item/source information. Though no clear pattern emerges, there are trends suggesting differences between item and source information, and verbal and spatial information, and a role for encoding processes during recognition tests. Important future directions are considered.

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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

Metabolic Brain Disease ◽

10.1007/s11011-021-00827-z ◽

2021 ◽

Author(s):

Patryk Lipiński ◽

Milena Greczan ◽

Dorota Piekutowska-Abramczuk ◽

Elżbieta Jurkiewicz ◽

Agnieszka Bakuła ◽

...

Keyword(s):

Intellectual Disability ◽

Liver Failure ◽

Acute Liver Failure ◽

Pediatric Patient ◽

Brain Atrophy ◽

Muscular Hypotonia ◽

Motor Delay ◽

Pathogenic Variants

AbstractBiallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c.2809C > G, p.(Pro937Ala) variant presenting with RALF with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Not reported in the literature findings include severe hyperammonemia during ALF episode, and neurologic features in the form of acquired progressive microcephaly with brain atrophy. The latter raises the hypothesis about a primary neurologic phenotype in NBAS deficiency.

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Epileptic Zone Resection for Magnetic Resonance Imaging–Negative Refractory Epilepsy Originating from the Primary Motor Cortex

World Neurosurgery ◽

10.1016/j.wneu.2017.02.090 ◽

2017 ◽

Vol 102 ◽

pp. 434-441 ◽

Cited By ~ 3

Author(s):

Guangming Zhang ◽

Dawei Meng ◽

Yanwu Liu ◽

Kai Yang ◽

Jianwei Chen ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Motor Cortex ◽

Primary Motor Cortex ◽

Refractory Epilepsy ◽

Resonance Imaging

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Magnetic resonance imaging and pathological features of a mixed glioma in a dog: case report

Arquivo Brasileiro de Medicina Veterinária e Zootecnia ◽

10.1590/1678-4162-10474 ◽

2018 ◽

Vol 70 (5) ◽

pp. 1383-1387 ◽

Cited By ~ 1

Author(s):

T.M. Granato ◽

L.P. Mesquita ◽

R.C. Costa ◽

J.P. Andrade Neto ◽

P.C. Maiorka

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Pathological Features ◽

Resonance Imaging ◽

Mri Findings ◽

Neoplastic Cells ◽

Temporal Lobes ◽

Mixed Glioma ◽

Perilesional Edema ◽

Magnetic Resonance Imaging Mri

ABSTRACT The aim of this report was to describe the magnetic resonance imaging (MRI) and pathological features of a canine mixed glioma. A 12-year-old boxer male dog was presented for necropsy along with data from an MRI evaluation conducted ante-mortem. The images were examined and showed a poorly demarcated prosencephalic lesion, hyperintense on T2W images, hypointense on T1W images and heterogeneously hyperintense on T2W FLAIR images. There was mild nonuniform contrast enhancement, apparent midline shift, moderate perilesional edema and marked distortion of the adjacent lateral ventricle. The brain was evaluated macroscopically, microscopically and immunohistochemically. Grossly, there was a poorly demarcated soft mass, with areas of hemorrhage, within the left parietal and temporal lobes. Histologically, there was a densely cellular mass composed of two geographically distinct populations of neoplastic cells. The first population was composed of small and round cells organized in a honeycomb pattern. The second population constituted of intermingled streams and bundles of neoplastic cells that were strongly immunolabeled for glial fibrillary acidic protein (GFAP). The diagnosis of a mixed glioma was based on MRI findings, and mainly on histological and immunohistochemical findings.

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A Consensus Definition of Supratotal Resection for Anatomically Distinct Primary Glioblastoma: An AANS/CNS Section on Tumors Survey of Neurosurgical Oncologists

10.21203/rs.3.rs-1098449/v1 ◽

2021 ◽

Author(s):

Maureen Rakovec ◽

Adham M. Khalafallah ◽

Oren Wei ◽

David Day ◽

Jason P. Sheehan ◽

...

Keyword(s):

Contrast Enhancement ◽

Resonance Imaging ◽

Consensus Definition ◽

Primary Glioblastoma ◽

Temporal Lobes ◽

Tumor Section ◽

Treatment Plans ◽

Definition Of ◽

The Right ◽

Supratotal Resection

Abstract Introduction: Supratotal resection (SpTR) of glioblastoma may be associated with improved survival, but published results have varied in part from lack of consensus on the definition and appropriate use of SpTR. A previous small survey of neurosurgical oncologists with expertise performing SpTR found resection 1-2 cm beyond contrast enhancement was an acceptable definition and glioblastoma involving the right frontal and bilateral anterior temporal lobes were considered most amenable to SpTR. The general neurosurgical oncology community has not yet confirmed the practicality of this definition. Methods Seventy-six general neurosurgical oncology members of the AANS/CNS Tumor Section were surveyed using a crowdsourcing approach. Participants were presented with 11 definitions of SpTR and rated each definition’s appropriateness. Participants additionally reviewed magnetic resonance imaging for 10 anatomically distinct glioblastomas and assessed the tumor location's eloquence, perceived equipoise of enrolling patients in a randomized trial comparing gross total to SpTR, and their personal treatment plans. Results Fifty-two neurosurgeons (73.2%) agreed that resection 1-2 cm beyond contrast enhancement was an acceptable definition for SpTR. Cases were divided into three anatomically distinct groups by perceived equipoise between gross total and SpTR. The best clinical trial candidates were right anterior temporal (n=58, 76.3%) and right frontal (n=55, 73.3%) glioblastomas. Conclusion Support exists within the neurosurgical oncology community to adopt the proposed consensus definition of SpTR of glioblastoma and to treat right anterior temporal and right frontal glioblastomas using SpTR. A smaller proportion of general neurosurgical oncologists than SpTR experts consider SpTR feasible in the left anterior temporal lobe.

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Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

Frontiers in Neurology ◽

10.3389/fneur.2021.694764 ◽

2021 ◽

Vol 12 ◽

Author(s):

Elisa Menozzi ◽

Anthony H. V. Schapira

Keyword(s):

Parkinson Disease ◽

Progressive Disease ◽

Clinical Aspects ◽

Compound Heterozygous ◽

Pathogenic Variants ◽

Risk Variants ◽

Increased Risk ◽

Severe Motor ◽

Heterozygous Carriers

Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into “severe,” “mild,” or “complex”—resulting from recombinant alleles—based on the phenotypic effects in GD) and “risk” variants, which are not associated with GD but nevertheless confer increased risk of PD. As a group, GBA-PD patients have more severe motor and nonmotor symptoms, faster disease progression, and reduced survival compared with noncarriers. However, different GBA variants impact variably on clinical phenotype. In the heterozygous state, “complex” and “severe” variants are associated with a more aggressive and rapidly progressive disease. Conversely, “mild” and “risk” variants portend a more benign course. Homozygous or compound heterozygous carriers usually display severe phenotypes, akin to heterozygous “complex” or “severe” variants carriers. This article reviews genotype–phenotype correlations in GBA-PD, focusing on clinical and nonclinical aspects (neuroimaging and biochemical markers), and explores other disease modifiers that deserve consideration in the characterization of these patients.

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