774 results match your criteria cerebellar cortical dysplasia


Prolidase enzyme is required for extracellular matrix integrity and impacts on postnatal cerebellar cortex development.

J Comp Neurol 2019 Jun 27. Epub 2019 Jun 27.

Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.

The extracellular matrix is essential for brain development, lamination, and synaptogenesis. In particular, the basement membrane below the pial meninx (pBM) is required for correct cortical development. The last step in the catabolism of the most abundant protein in pBM, collagen Type IV, requires prolidase, an exopeptidase cleaving the imidodipeptides containing pro or hyp at the C-terminal end. Read More

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http://dx.doi.org/10.1002/cne.24735DOI Listing
June 2019
3 Reads

Congenital Zika Syndrome: The Main Cause of Death and Correspondence Between Brain CT and Postmortem Histological Section Findings From the Same Individuals.

Top Magn Reson Imaging 2019 Feb;28(1):29-33

Federal University of Pernambuco, Recife, Brazil.

In the present case series, the cause of death of infants diagnosed with congenital Zika syndrome (CZS) was lung disease (pneumonia and sepsis with massive pulmonary aspiration), probably secondary to dysphagia and reflux. The main findings in infants with a confirmed diagnosis of CZS who died were as follows: (1) calcification and hypoplasia of the lentiform nuclei, hypoplasia of the caudate nuclei, and calcification at the cortical-subcortical junction was noted in all cases (100%) and calcification of the caudate nuclei was noted in 66.7% of cases; (2) calcification in the brainstem and along the lateral wall of the lateral ventricles was noted in only the case with arthrogryposis (33. Read More

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http://dx.doi.org/10.1097/RMR.0000000000000194DOI Listing
February 2019
10 Reads

Updated Imaging Findings in Congenital Zika Syndrome: A Disease Story That is Still Being Written.

Top Magn Reson Imaging 2019 Feb;28(1):1-14

Royal Perth Hospital (RPH).

In congenital Zika virus syndrome (CZS), the most frequent radiological findings are calcifications in the cortical-white matter junction and malformations of cortical development (pachygyria or polymicrogyria, which occur predominantly in the frontal lobes, or a simplified gyral pattern), ventriculomegaly, enlargement of the cisterna magna and the extra-axial subarachnoid space, corpus callosum abnormalities, and reduced brain volume. This syndrome can also result in a decrease in the brainstem and cerebellum volumes and delayed myelination. Infants with CZS may show venous thrombosis and lenticulostriate vasculopathies. Read More

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http://dx.doi.org/10.1097/RMR.0000000000000193DOI Listing
February 2019
7 Reads

β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.

Neuroradiol J 2019 Apr 1;32(2):148-150. Epub 2019 Feb 1.

4 Department of Radiology, University of North Carolina, USA.

Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Read More

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http://dx.doi.org/10.1177/1971400919828142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410457PMC
April 2019
7 Reads

Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.

Brain Dev 2019 Jun 18;41(6):507-515. Epub 2019 Jan 18.

Integrative Brain Imaging Center, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan.

Objective: Cerebellar dysmaturation and injury is associated with a wide range of neuromotor, neurocognitive and behavioral disorders as well as with preterm birth. We used diffusion tensor MR imaging to investigate a disruption in structural cortico-ponto-cerebellar (CPC) connectivity in children with infantile-onset severe epilepsy.

Methods: We performed CPC tract reconstructions in 24 hemimegalencephaly (HME) patients, 28 West syndrome (WS) of unknown etiology patients, and 25 pediatric disease control subjects without a history of epilepsy nor brain abnormality on MRI. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.01.002DOI Listing
June 2019
6 Reads

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Hum Genet 2019 Feb 17;138(2):187-198. Epub 2019 Jan 17.

Oasi Research Institute-IRCCS, Troina, Italy.

Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings who presented with severe DEE, microcephaly, spastic tetraplegia, diffuse brain hypomyelination, cerebellar atrophy, short stature, and kyphoscoliosis. Whole exome next-generation sequencing (WES) identified in both siblings a homozygous non-sense variant in the ACTL6B gene (NM_016188:c. Read More

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http://dx.doi.org/10.1007/s00439-019-01972-3DOI Listing
February 2019
8 Reads

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

Fetal Pediatr Pathol 2019 Feb 26;38(1):63-71. Epub 2018 Dec 26.

b Prenatal Diagnosis Center , Shenzhen Maternity and Child Healthcare Hospital , Shenzhen , China.

Introduction: A range of cerebrocortical development malformations (MCD) ranging from simplified gyral patterns to the complete loss of gyri and sulci is associated with mutations in a cluster of highly homolog β-tublin genes, such as TUBB2A and TUBB2B.

Case Report: The fetus had pachygyria, asymmetrical perisylvian polymicrogyria, dysplasia of the lateral sulcus and insula, agenesis of the splenium and partial agenesis of the body corpus callosum, cerebellar superior vermian hypoplasia with agenesis of the inferior vermis. Karyotype and microarray were normal. Read More

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http://dx.doi.org/10.1080/15513815.2018.1538273DOI Listing
February 2019
16 Reads
0.398 Impact Factor

Tubulinopathies.

Top Magn Reson Imaging 2018 Dec;27(6):395-408

Neuroimaging Lab, Scientific Institute, IRCCS E. Medea Bosisio Parini, Italy.

Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Read More

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http://Insights.ovid.com/crossref?an=00002142-201812000-0000
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http://dx.doi.org/10.1097/RMR.0000000000000188DOI Listing
December 2018
48 Reads

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.

Turk J Pediatr 2018 ;60(3):229-237

Departments of Medical Biology and Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Read More

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http://dx.doi.org/10.24953/turkjped.2018.03.001DOI Listing
February 2019
13 Reads

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

J Neuropathol Exp Neurol 2019 Jan;78(1):3-9

Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario Canada.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It has only been recognized since 2002 and the full spectrum of the disorder is still being delineated. Here, we review a case report of a severely affected girl with a thorough neuropathological evaluation demonstrating novel clinical and pathological findings. Read More

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http://dx.doi.org/10.1093/jnen/nly105DOI Listing
January 2019
26 Reads
3.797 Impact Factor

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Neuron 2018 12 15;100(6):1354-1368.e5. Epub 2018 Nov 15.

Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address:

Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule-associated protein that is predominantly expressed in post-mitotic neurons and is present in both dendritic and axonal compartments. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08966273183095
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http://dx.doi.org/10.1016/j.neuron.2018.10.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436622PMC
December 2018
47 Reads

Congenital Zika syndrome associated with findings of cerebellar cortical dysplasia - Broadening the spectrum of presentation of the syndrome.

J Neuroradiol 2018 Nov 15. Epub 2018 Nov 15.

Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1016/j.neurad.2018.10.009DOI Listing
November 2018
9 Reads

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Eur J Med Genet 2018 Dec 31;61(12):783-789. Epub 2018 Oct 31.

Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. Electronic address:

Heterozygous gain of function mutations in the ZIC1 gene have been described with syndromic craniosynostosis, variable cerebral or cerebellar abnormalities and mild to moderate developmental delay. Deletion of chromosome 3q25.1 including both adjacent ZIC1 and ZIC4 genes have been described as a cause of variable cerebellar abnormalities including Dandy-Walker malformation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.10.018DOI Listing
December 2018
36 Reads

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.

Am J Med Genet B Neuropsychiatr Genet 2018 12 22;177(8):687-690. Epub 2018 Oct 22.

Pediatric Neurology and Psychiatric Department, Ospedale dei Bambini di Brescia, Brescia, Lombardia, Italy.

We report the case of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical EEG pattern, and minimal cerebellar atrophy. We ruled out the syndromic and metabolic causes of microcephaly and subsequently conducted a panel of genetic diagnostic tests, including the clinical exome sequencing which revealed compound heterozygous mutations in MED 17 gene in both patients. p. Read More

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http://doi.wiley.com/10.1002/ajmg.b.32677
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http://dx.doi.org/10.1002/ajmg.b.32677DOI Listing
December 2018
26 Reads

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

Acta Neuropathol Commun 2018 10 19;6(1):109. Epub 2018 Oct 19.

Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F 76000, Rouen, France.

Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike microcephaly for which several disease-causing genes have been identified with different modes of inheritance, the molecular bases of rhombencephalosynapsis remain unknown and rhombencephalosynapsis presents mainly as a sporadic condition consistent with de novo dominant variations. We report for the first time the association of extreme microcephaly with almost no sulcation and rhombencephalosynapsis in a fœtus for which comparative patient-parent exome sequencing strategy revealed a heterozygous de novo missense variant in the ADGRL2 gene. Read More

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http://dx.doi.org/10.1186/s40478-018-0610-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195752PMC
October 2018
12 Reads

Neuroimaging Findings in a Child With SensorineuralHearing Loss.

Pediatr Neurol 2018 11 16;88:75-76. Epub 2018 Aug 16.

Division of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183052
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.012DOI Listing
November 2018
11 Reads

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.

Ital J Pediatr 2018 Sep 19;44(1):110. Epub 2018 Sep 19.

Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy.

Background: Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR cellular pathway, a signaling cascade that plays a key role in cellular growth. Overgrowth syndromes are frequently misdiagnosed. Read More

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0568-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146629PMC
September 2018
7 Reads

A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries.

J Clin Ultrasound 2018 Nov 14;46(9):588-590. Epub 2018 Aug 14.

Department of Obstetrics and Gynecology, Trakya University Faculty of Medicine, Edirne, Turkey.

Posterior encephalocele is a neural tube defect, which is a sac-like protrusion of the neural tissue and cerebrospinal fluid through a defect in the occipital bone. This embryonic anomaly may coexist with cortical dysplasia, agenesis of the corpus callosum, hydrocephalus, microcephaly, craniofacial abnormalities, ventricular and atrial septal defect. We report a case of a large posterior encephalocele in a fetus accompanied by unexpected major abnormalities including transposition of the great arteries, severe ventriculomegaly and cerebellar atrophy. Read More

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http://doi.wiley.com/10.1002/jcu.22625
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http://dx.doi.org/10.1002/jcu.22625DOI Listing
November 2018
47 Reads

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

Eur J Hum Genet 2018 12 8;26(12):1752-1758. Epub 2018 Aug 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodegenerative disorder with a prenatal onset. Using whole-exome sequencing, we identified variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis, in four individuals from two families with PCH, prenatal onset microcephaly, and arthrogryposis. In family 1, compound heterozygous variants were identified in COASY: c. Read More

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http://dx.doi.org/10.1038/s41431-018-0233-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244412PMC
December 2018
34 Reads

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

Brain Sci 2018 Aug 7;8(8). Epub 2018 Aug 7.

Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.

The gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and cortical organisation. Mutations in have been reported to cause a range of brain malformations. Read More

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http://dx.doi.org/10.3390/brainsci8080145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119949PMC
August 2018
30 Reads

Meningioangiomatosis: A review of the variable manifestations and complex pathophysiology.

J Neurol Sci 2018 09 24;392:130-136. Epub 2018 Jul 24.

Department of Pathology and Molecular Medicine, Neuropathology Section, McMaster University, Hamilton, Ontario, Canada. Electronic address:

Meningioangiomatosis (MA) is a rare, complex and heterogeneous disease of meningovascular proliferation that is found primarily in the leptomeninges and cerebral cortex but can involve subcortical white matter and other brain regions such as the cerebellum and deep gray matter. MA may be found in pediatric or adult populations and may be sporadic or neurofibromatosis-associated. The presentation of MA is highly variable: it may be associated with other neurological diseases; clinically presents on a spectrum from asymptomatic to seizures or focal deficits; radiologically presents with multifocal, tumor-like, or cystic lesions, or may appear normal; and pathologically may have cellular or vascular predominance. Read More

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http://dx.doi.org/10.1016/j.jns.2018.07.018DOI Listing
September 2018

Tubulin genes and malformations of cortical development.

Eur J Med Genet 2018 Dec 17;61(12):744-754. Epub 2018 Jul 17.

Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.07.012DOI Listing
December 2018
35 Reads

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

BMC Ophthalmol 2018 Jun 22;18(1):147. Epub 2018 Jun 22.

Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490, Riyadh, 11426, Saudi Arabia.

Background: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.

Case Presentation: We describe a GMS case diagnosed with homozygous missense mutation in the WDR73 gene, with absence of renal abnormalities. We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip. Read More

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http://dx.doi.org/10.1186/s12886-018-0820-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013877PMC
June 2018
38 Reads

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Brain Dev 2018 Oct 12;40(9):819-823. Epub 2018 Jun 12.

Department of Pediatrics, Nagasaki University Hospital, Japan.

Background: Tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum, and cerebellar hypoplasia. They are caused by the dysfunction of tubulins encoded by tubulin-related genes, and the TUBA1A gene encoding alpha-1A tubulin is most frequently responsible for this clinical entity. Porencephaly is relatively rare among patients with the TUBA1A mutations. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.05.012DOI Listing
October 2018
11 Reads

Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis.

Dev Med Child Neurol 2018 07;60(7):724-725

Department of Woman and Child Health, Pediatric Neurology and Neurophysiology Unit, University Hospital of Padova, Padova, Italy.

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http://dx.doi.org/10.1111/dmcn.13769DOI Listing
July 2018
13 Reads

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Brain 2018 07;141(7):1998-2013

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.

Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive conditions and the exact contribution of de novo mutations to this phenotype has not been assessed. In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as intellectual disability, autism spectrum disorders and epilepsy. Read More

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http://dx.doi.org/10.1093/brain/awy145DOI Listing
July 2018
46 Reads
9.196 Impact Factor

Bergmann glial Sonic hedgehog signaling activity is required for proper cerebellar cortical expansion and architecture.

Dev Biol 2018 08 21;440(2):152-166. Epub 2018 May 21.

Department of Cell and Developmental Biology, Vanderbilt University, 4114 MRB III, Nashville, TN 37232, USA. Electronic address:

Neuronal-glial relationships play a critical role in the maintenance of central nervous system architecture and neuronal specification. A deeper understanding of these relationships can elucidate cellular cross-talk capable of sustaining proper development of neural tissues. In the cerebellum, cerebellar granule neuron precursors (CGNPs) proliferate in response to Purkinje neuron-derived Sonic hedgehog (Shh) before ultimately exiting the cell cycle and migrating radially along Bergmann glial fibers. Read More

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http://dx.doi.org/10.1016/j.ydbio.2018.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014626PMC
August 2018
62 Reads

Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility.

J Biol Chem 2018 06 7;293(24):9292-9300. Epub 2018 May 7.

From the Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205

Defects in phosphatase and tensin homolog (PTEN) are associated with neurological disorders and tumors. PTEN functions at two primary intracellular locations: the plasma membrane and the nucleus. At the membrane, PTEN functions as a phosphatidylinositol (3,4,5)-trisphosphate phosphatase and suppresses PI 3-kinase signaling that drives cell growth and tumorigenesis. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA118.002356
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http://dx.doi.org/10.1074/jbc.RA118.002356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005449PMC
June 2018
16 Reads

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. Read More

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018
4 Reads

Zika and the Eye: Pieces of a Puzzle.

Prog Retin Eye Res 2018 09 24;66:85-106. Epub 2018 Apr 24.

Vision Institute, Department of Ophthalmology, Paulista Medical School, Federal University of São Paulo, São Paulo, Brazil; Brazilian Institute of Fight Against Blindness, Assis and Presidente Prudente, São Paulo, Brazil. Electronic address:

Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2018.04.004DOI Listing
September 2018
40 Reads

Novel CASK mutations in cases with syndromic microcephaly.

Hum Mutat 2018 07 11;39(7):993-1001. Epub 2018 May 11.

Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, Leuven, Belgium.

Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. Read More

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http://doi.wiley.com/10.1002/humu.23536
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http://dx.doi.org/10.1002/humu.23536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995665PMC
July 2018
5 Reads

Brain Magnetic Resonance Imaging Findings of Congenital Cytomegalovirus Infection as a Prognostic Factor for Neurological Outcome.

Pediatr Neurol 2018 06 21;83:14-18. Epub 2018 Mar 21.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: The aim of this study is to predict the neurological outcomes of patients with congenital cytomegalovirus infection by analysis of magnetic resonance images of the brain.

Methods: From June 2007 to June 2016, 31 patients were diagnosed with symptomatic congenital cytomegalovirus infection at Asan Medical Center. The medical records and magnetic resonance imaging (MRI) findings of these patients were reviewed, and the relationships between MRI findings and neurological outcomes were analyzed. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.008DOI Listing
June 2018
2 Reads

Adams Oliver syndrome with cerebellar cortical dysplasia.

Childs Nerv Syst 2018 06 22;34(6):1109-1110. Epub 2018 Apr 22.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://link.springer.com/10.1007/s00381-018-3810-1
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http://dx.doi.org/10.1007/s00381-018-3810-1DOI Listing
June 2018
19 Reads

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Parkinsonism Relat Disord 2018 07 5;52:55-61. Epub 2018 Apr 5.

Department of Clinical Neuroscience, Tokushima University, Tokushima, Japan.

Background: Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with complex early-onset dystonia. Almost all reported KMT2B mutations occurred de novo in the paternal germline or in the early development of the patient. We describe clinico-genetic features on four Japanese patients with novel de novo mutations and demonstrate the phenotypic spectrum of KMT2B mutations. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2018.03.022DOI Listing
July 2018
15 Reads

ERCC6L2-associated inherited bone marrow failure syndrome.

Mol Genet Genomic Med 2018 05 6;6(3):463-468. Epub 2018 Apr 6.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.

Background: ERCC6L2-associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole-exome sequencing performed at the University of Toronto. Read More

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http://dx.doi.org/10.1002/mgg3.388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014454PMC
May 2018
4 Reads

Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex.

Neurology 2018 04 23;90(17):e1493-e1500. Epub 2018 Mar 23.

From the Departments of Neurology (S.S., K.K., M.S.) and Radiology (A.K.P., B.S., S.K.W.), Boston Children's Hospital, Harvard Medical School, Boston, MA; and Department of Pediatrics (D.A.K.), Division of Neurology, Cincinnati Children's Hospital Medical Center, OH.

Objective: In this cohort analysis, we studied 1-year-old infants with tuberous sclerosis complex (TSC), correlating volumes of cerebellar structures with neurodevelopmental measures.

Methods: We analyzed data from a prospective biomarker study in infants with TSC (ClinicalTrials.gov NCT01780441). Read More

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http://dx.doi.org/10.1212/WNL.0000000000005352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921037PMC
April 2018
23 Reads

[Tentorial Dural Arteriovenous Fistula Presenting with Ocular Symptoms:A Case Report].

No Shinkei Geka 2018 Mar;46(3):219-225

Department of Neurosurgery, Wakayama Medical University.

Tentorial dural arteriovenous fistula(dAVF)is classified as Cognard 4 with a high risk of aggressive feature, such as intracranial hemorrhage, venous infarction, and intracranial hypertension. We report a rare case presenting with ocular symptoms caused by tentorial dAVF. A 59-year-old man presented with progressive chemosis and exophthalmos of his left eye. Read More

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http://dx.doi.org/10.11477/mf.1436203708DOI Listing
March 2018
6 Reads

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.

Arch Dis Child 2018 May 13;103(5):463-469. Epub 2018 Mar 13.

Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK.

Objective: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.

Design: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service. Read More

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http://adc.bmj.com/lookup/doi/10.1136/archdischild-2017-3131
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http://dx.doi.org/10.1136/archdischild-2017-313154DOI Listing
May 2018
34 Reads

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.

Brain Dev 2018 Jun 2;40(6):480-483. Epub 2018 Mar 2.

Center for Molecular Medicine Cologne, Cologne, Germany; Department of Pediatrics, University Hospital of Cologne, Cologne, Germany. Electronic address:

Introduction: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1.

Case Report: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.02.008DOI Listing
June 2018
14 Reads

Vertical Transmission of the Zika Virus Causes Neurological Disorders in Mouse Offspring.

Sci Rep 2018 02 23;8(1):3541. Epub 2018 Feb 23.

State Key Laboratory of Brain and Cognitive Science, CAS Center for Excellence in Brain Science and Intelligence Technology (Shanghai), Institute of Biophysics, Chinese Academy of Sciences, Beijing, 100101, China.

The association between Zika virus (ZIKV) infection and congenital malformations such as microcephaly in infants is a public health emergency. Although various in vivo and in vitro models are used for ZIKV research, few animal models are available for resolving the effects of maternal ZIKV infection on neonatal development. Here, we established an immunocompetent mouse model via intrauterine inoculation. Read More

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http://dx.doi.org/10.1038/s41598-018-21894-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824946PMC
February 2018
21 Reads

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Eur J Hum Genet 2018 05 20;26(5):695-708. Epub 2018 Feb 20.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. Read More

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http://dx.doi.org/10.1038/s41431-018-0098-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945775PMC
May 2018
35 Reads

MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I.

Neurol Sci 2018 May 17;39(5):821-827. Epub 2018 Feb 17.

Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, 13351, Egypt.

The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Read More

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http://link.springer.com/10.1007/s10072-018-3284-7
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http://dx.doi.org/10.1007/s10072-018-3284-7DOI Listing
May 2018
16 Reads
1.500 Impact Factor

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin.

Mol Psychiatry 2018 11 15;23(11):2167-2183. Epub 2018 Feb 15.

Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Accumulating evidence suggests that cerebellar dysfunction early in life is associated with autism spectrum disorder (ASD), but the molecular mechanisms underlying the cerebellar deficits at the cellular level are unclear. Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that often presents with ASD. Here, we developed a cerebellar Purkinje cell (PC) model of TSC with patient-derived human induced pluripotent stem cells (hiPSCs) to characterize the molecular mechanisms underlying cerebellar abnormalities in ASD and TSC. Read More

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http://dx.doi.org/10.1038/s41380-018-0018-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093816PMC
November 2018
13 Reads

Distinct magnetic resonance imaging features in a patient with novel mutations: A case report and review of the literature.

Exp Ther Med 2018 Jan 10;15(1):1099-1104. Epub 2017 Nov 10.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, P.R. China.

Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. Read More

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http://www.spandidos-publications.com/10.3892/etm.2017.5491
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http://dx.doi.org/10.3892/etm.2017.5491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772945PMC
January 2018
3 Reads

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.

Hum Genet 2018 Mar 9;137(3):231-246. Epub 2018 Feb 9.

Virginia Tech Carilion Research Institute, 2 Riverside Circle, Roanoke, VA, 24016, USA.

Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, however, has not been directly tested. Read More

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http://link.springer.com/10.1007/s00439-018-1874-3
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http://dx.doi.org/10.1007/s00439-018-1874-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391276PMC
March 2018
22 Reads

Mixed Neurodevelopmental and Neurodegenerative Pathology in -Null Mouse Model of Christianson Syndrome.

eNeuro 2017 Nov-Dec;4(6). Epub 2018 Jan 17.

Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912.

Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in , which encodes the endosomal Na/H exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished brain growth postnatally. Read More

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http://dx.doi.org/10.1523/ENEURO.0388-17.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771691PMC
December 2018
7 Reads

Transcriptional Regulator ZEB2 Is Essential for Bergmann Glia Development.

J Neurosci 2018 02 11;38(6):1575-1587. Epub 2018 Jan 11.

Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China,

Bergmann glia facilitate granule neuron migration during development and maintain the cerebellar organization and functional integrity. At present, molecular control of Bergmann glia specification from cerebellar radial glia is not fully understood. In this report, we show that ZEB2 (aka, SIP1 or ZFHX1B), a Mowat-Wilson syndrome-associated transcriptional regulator, is highly expressed in Bergmann glia, but hardly detectable in astrocytes in the cerebellum. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.2674-17.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815355PMC
February 2018
10 Reads