collection
https://read.qxmd.com/read/35503477/monogenic-causes-of-pigmentary-mosaicism
#1
JOURNAL ARTICLE
Ken Saida, Pin Fee Chong, Asuka Yamaguchi, Naka Saito, Hajime Ikehara, Eriko Koshimizu, Rie Miyata, Akira Ishiko, Kazuyuki Nakamura, Hidenori Ohnishi, Kei Fujioka, Takafumi Sakakibara, Hideo Asada, Kohei Ogawa, Kyoko Kudo, Eri Ohashi, Michiko Kawai, Yuichi Abe, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Mitsuhiro Kato, Ryutaro Kira, Naomichi Matsumoto
Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic causes of pigmentary mosaicism have been recently reported. Eleven unrelated individuals with pigmentary mosaicism (mostly hypopigmented skin) were recruited for this study. Skin punch biopsies of the probands and trio-based blood samples (from probands and both biological parents) were collected, and genomic DNA was extracted and analyzed by exome sequencing...
November 2022: Human Genetics
https://read.qxmd.com/read/34996880/cutaneous-lesions-as-a-clue-to-the-etiology-of-extensive-intracranial-calcifications-aicardi-gouti%C3%A3-res-syndrome
#2
JOURNAL ARTICLE
Yi-Heng Zeng, Miao Zhao, Xin-Xin Guo, Ning Wang, Wan-Jin Chen
No abstract text is available yet for this article.
March 8, 2022: Neurology
https://read.qxmd.com/read/35017312/efficacy-and-safety-of-selumetinib-in-pediatric-patients-with-neurofibromatosis-type-1-a-systematic-review-and-meta-analysis
#3
JOURNAL ARTICLE
Jisun Hwang, Hee Mang Yoon, Beom Hee Lee, Pyeong Hwa Kim, Kyung Won Kim
BACKGROUND AND OBJECTIVES: Although the recent approval of selumetinib is expected to transform the management of children with neurofibromatosis type 1 (NF1), particularly those with symptomatic and inoperable plexiform neurofibromas, no systematic review has summarized its efficacy and safety based on the latest studies. This study was conducted to systematically evaluate the efficacy and safety of selumetinib in children with NF1. METHODS: Original articles reporting the efficacy and safety of selumetinib in patients with NF1 were identified in PubMed and EMBASE up to January 28, 2021...
March 1, 2022: Neurology
https://read.qxmd.com/read/33242182/neuronal-ceroid-lipofuscinosis-potential-for-targeted-therapy
#4
REVIEW
Nicola Specchio, Alessandro Ferretti, Marina Trivisano, Nicola Pietrafusa, Chiara Pepi, Costanza Calabrese, Susanna Livadiotti, Alessandra Simonetti, Paolo Rossi, Paolo Curatolo, Federico Vigevano
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that together represent the most common cause of dementia in children. Phenotypically, patients have visual impairment, cognitive and motor decline, epilepsy, and premature death. A primary challenge is to halt and/or reverse these diseases, towards which developments in potential effective therapies are encouraging. Many treatments, including enzyme replacement therapy (for CLN1 and CLN2 diseases), stem-cell therapy (for CLN1, CLN2, and CLN8 diseases), gene therapy vector (for CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN10, and CLN11 diseases), and pharmacological drugs (for CLN1, CLN2, CLN3, and CLN6 diseases) have been evaluated for safety and efficacy in pre-clinical and clinical studies...
January 2021: Drugs
https://read.qxmd.com/read/33866445/hereditary-diffuse-leukoencephalopathy-with-spheroids-mimicking-primary-progressive-aphasia-report-of-a-greek-case
#5
JOURNAL ARTICLE
Panagiotis Stoiloudis, Dimitrios Parissis, Nikoletta Smyrni, Thomai Stardeli, Theodora Afrantou, Eleni Konstantinopoulou, Nikolaos Grigoriadis, Panagiotis Ioannidis
INTRODUCTION: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report the unique case of a Greek HDLS patient, demonstrating an unusual phenotype, reminiscent of primary progressive aphasia (PPA). METHODS: A 63-year-old woman was referred with a 2-year history of deteriorating language and memory deficits, apathy, and two generalized tonic-clonic seizures...
April 18, 2021: Neurological Sciences
https://read.qxmd.com/read/33866847/kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-with-a-novel-rogd1-variant-in-3-individuals-a-rare-clinical-entity
#6
JOURNAL ARTICLE
Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, Anna Schossig, Gülen Eda Utine, Johannes Zschocke, Koray Boduroglu
Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in ROGDI (MIM 226750) and SLC13A5 (MIM 615905) are responsible for Kohlschütter-Tönz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in ROGD1 , along with a long-term follow-up and review of the literature...
April 19, 2021: Journal of Child Neurology
https://read.qxmd.com/read/33773637/genetic-basis-of-lacunar-stroke-a-pooled-analysis-of-individual-patient-data-and-genome-wide-association-studies
#7
JOURNAL ARTICLE
Matthew Traylor, Elodie Persyn, Liisa Tomppo, Sofia Klasson, Vida Abedi, Mark K Bakker, Nuria Torres, Linxin Li, Steven Bell, Loes Rutten-Jacobs, Daniel J Tozer, Christoph J Griessenauer, Yanfei Zhang, Annie Pedersen, Pankaj Sharma, Jordi Jimenez-Conde, Tatjana Rundek, Raji P Grewal, Arne Lindgren, James F Meschia, Veikko Salomaa, Aki Havulinna, Christina Kourkoulis, Katherine Crawford, Sandro Marini, Braxton D Mitchell, Steven J Kittner, Jonathan Rosand, Martin Dichgans, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, Ramin Zand, Ynte Ruigrok, Natalia Rost, Robin Lemmens, Peter M Rothwell, Christopher D Anderson, Joanna Wardlaw, Cathryn M Lewis, Hugh S Markus
BACKGROUND: The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease. METHODS: We did a pooled analysis of data from newly recruited patients with an MRI-confirmed diagnosis of lacunar stroke and existing genome-wide association studies (GWAS). Patients were recruited from hospitals in the UK as part of the UK DNA Lacunar Stroke studies 1 and 2 and from collaborators within the International Stroke Genetics Consortium...
May 2021: Lancet Neurology
https://read.qxmd.com/read/26271793/diagnostic-approach-to-genetic-causes-of-early-onset-epileptic-encephalopathy
#8
REVIEW
Semra Gürsoy, Derya Erçal
Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent interictal epileptiform discharges seen during the early infantile period. Although epileptic encephalopathies are mostly associated with structural brain defects and inherited metabolic disorders, pathogenic gene mutations may also be involved in the development of epileptic encephalopathies even when no clear genetic inheritance patterns or consanguinity exist. The most common epileptic encephalopathies are Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome and Dravet syndrome, which are usually unresponsive to traditional antiepileptic medication...
March 2016: Journal of Child Neurology
https://read.qxmd.com/read/26073591/novel-genes-of-early-onset-epileptic-encephalopathies-from-genotype-to-phenotypes
#9
REVIEW
Mario Mastrangelo
BACKGROUND: Early-onset epileptic encephalopathies are severe disorders in which seizure recurrence impairs motor, cognitive, and sensory development. In recent years, next-generation sequencing technologies have led to the detection of several pathogenic new genes. METHODS AND RESULTS: A PubMed search was carried out using the entries "early onset epileptic encephalopathies," "early infantile epileptic encephalopathies," and "next generation sequencing." The most relevant articles written on this subject between 2000 and 2015 were selected...
August 2015: Pediatric Neurology
https://read.qxmd.com/read/25968935/pathogenesis-and-new-candidate-treatments-for-infantile-spasms-and-early-life-epileptic-encephalopathies-a-view-from-preclinical-studies
#10
REVIEW
Aristea S Galanopoulou, Solomon L Moshé
Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with medically intractable or difficult to treat epileptic seizures and prominent cognitive, neurodevelopmental and behavioral consequences. EIEEs have numerous etiologies that contribute to the inter- and intra-syndromic phenotypic variability. Etiologies include structural and metabolic or genetic etiologies although a significant percentage is of unknown cause. The need to better understand their pathogenic mechanisms and identify better therapies has driven the development of animal models of EIEEs...
July 2015: Neurobiology of Disease
https://read.qxmd.com/read/20887364/stxbp1-mutations-in-early-infantile-epileptic-encephalopathy-with-suppression-burst-pattern
#11
COMPARATIVE STUDY
Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tetsuzo Tagawa, Shigeru Kimura, Akira Sudo, Sahoko Miyama, Yuichi Takami, Toshihide Watanabe, Akira Nishimura, Kiyomi Nishiyama, Noriko Miyake, Takahito Wada, Hitoshi Osaka, Naomi Kondo, Kiyoshi Hayasaka, Naomichi Matsumoto
PURPOSE: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression-burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects. METHODS: STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort. RNA splicing was analyzed in lymphoblastoid cells from a subject harboring a c...
December 2010: Epilepsia
https://read.qxmd.com/read/33776624/dystonia-and-contractures-are-potential-early-signs-of-cacna1e-related-epileptic-encephalopathy
#12
Nelmar V Ortiz Cabrera, Anna Duat Rodríguez, Bárbara Fernández Garoz, Beatriz Bernardino Cuesta, María Jiménez Legido, Verónica Cantarín Extremera, Juan J García Peñas
Epileptic encephalopathy related to CACNA1E has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of CACNA1E encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia...
March 2021: Molecular Syndromology
https://read.qxmd.com/read/33763868/precision-medicine-for-genetic-childhood-movement-disorders
#13
REVIEW
Audrey K S Soo, Arianna Ferrini, Manju A Kurian
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism. In tandem with these scientific advances, close collaboration between clinicians, researchers, affected families, and stakeholders in the wider community will be key to successfully delivering such precision therapies to children with movement disorders...
August 2021: Developmental Medicine and Child Neurology
https://read.qxmd.com/read/33791999/pitfalls-in-genetic-diagnostics-why-phenotyping-is-essential
#14
JOURNAL ARTICLE
Janina Gburek-Augustat, Jan-Christoph Schoene-Bake, Eva Bültmann, Tobias Haack, Rebecca Buchert, Matthis Synofzik, Saskia Biskup, Friedrich Feuerhake, Ina Sorge, Hans Hartmann
New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings...
August 2021: Neuropediatrics
https://read.qxmd.com/read/33686259/genome-wide-investigation-identifies-a-rare-copy-number-variant-burden-associated-with-human-spina-bifida
#15
JOURNAL ARTICLE
Paul Wolujewicz, Vanessa Aguiar-Pulido, Alice AbdelAleem, Vidya Nair, Gaurav Thareja, Karsten Suhre, Gary M Shaw, Richard H Finnell, Olivier Elemento, M Elizabeth Ross
PURPOSE: Next-generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural variation to this complex genetic disorder remains largely unknown. We examined copy-number variant (CNV) participation in the genetic architecture underlying SB risk. METHODS: A high-confidence ensemble approach to genome sequences (GS) was benchmarked and employed for systematic detection of common and rare CNVs in two separate ancestry-matched SB case-control cohorts...
March 8, 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/33349592/clinical-phenotypes-of-infantile-onset-cacna1a-related-disorder
#16
MULTICENTER STUDY
Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, Agathe Roubertie, Ginevra Zanni, Alfons Macaya, Gali Heimer, Belén Pérez Dueñas, Deborah A Sival, Ben Pode-Shakked, Eduardo López-Laso, Véronique Humbertclaude, Florence Riant, Luca Bosco, Lital Bachar Cayron, Andreea Nissenkorn, Francesco Nicita, Enrico Bertini, Sharon Hassin, Bruria Ben Zeev, Ayelet Zerem, Stephanie Libzon, Dorit Lev, Ilan Linder, Tally Lerman-Sagie, Lubov Blumkin
BACKGROUND: CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic attacks. These phenotypes overlap and co-exist in the majority of patients. OBJECTIVE: To describe phenotypes in infantile onset CACNA1A-related disorder and to explore intra-familial variations and genotype-phenotype correlations. MATERIAL AND METHODS: This study was a multicenter international collaboration...
January 2021: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/33272949/cervical-spinal-cord-compression-and-sleep-disordered-breathing-in-syndromic-craniosynostosis
#17
JOURNAL ARTICLE
B K den Ottelander, R de Goederen, C A de Planque, S J Baart, M L C van Veelen, L J A Corel, K F M Joosten, I M J Mathijssen, M H G Dremmen
BACKGROUND AND PURPOSE: Cerebellar tonsillar herniation arises frequently in syndromic craniosynostosis and causes central and obstructive apneas in other diseases through spinal cord compression. The purposes of this study were the following: 1) to determine the prevalence of cervical spinal cord compression in syndromic craniosynostosis, and 2) to evaluate its connection with sleep-disordered breathing. MATERIALS AND METHODS: This was a cross-sectional study including patients with syndromic craniosynostosis who underwent MR imaging and polysomnography...
January 2021: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/33478946/spinal-cord-gray-and-white-matter-damage-in-different-hereditary-spastic-paraplegia-subtypes
#18
JOURNAL ARTICLE
K R Servelhere, R F Casseb, F D de Lima, T J R Rezende, L P Ramalho, M C França
BACKGROUND AND PURPOSE: Spinal cord damage is a hallmark of hereditary spastic paraplegias, but it is still not clear whether specific subtypes of the disease have distinctive patterns of spinal cord gray (GM) and white (WM) matter involvement. We compared cervical cross-sectional GM and WM areas in patients with distinct hereditary spastic paraplegia subtypes. We also assessed whether these metrics correlated with clinical parameters. MATERIALS AND METHODS: We analyzed 37 patients (17 men; mean age, 47...
March 2021: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/33305985/magnetic-resonance-spectroscopy-in-children-with-developmental-delay-time-to-look-beyond-conventional-magnetic-resonance-imaging-mri
#19
JOURNAL ARTICLE
Nikhil Rajvanshi, Rahul Bhakat, Sudhir Saxena, Jitendra Rohilla, Sriparna Basu, Khanak Kumar Nandolia, Sonam Agrawal, Nowneet Kumar Bhat, Swathi Chacham
Developmental delay (DD) is an important long-term neuromorbidity owing to various insults to the developing brain and neuroimaging plays a key role in evaluating these children. Magnetic resonance spectroscopy (MRS) is the only noninvasive method to determine the levels of various metabolites in the brain which aids in delineating the underlying abnormalities. A total of 48 children aged between 6 months to 6 years with developmental delay were included and evaluated with neuroimaging in our study. Sensitivity of MRS in children with DD and DD plus (DD along with seizures, abnormal motor findings, behavior, brainstem evoked response audiometry, visual assessment, and microcephaly) was 81...
May 2021: Journal of Child Neurology
https://read.qxmd.com/read/32165031/dravet-syndrome-a-review-of-current-management
#20
REVIEW
James W Wheless, Stephen P Fulton, Basanagoud D Mudigoudar
Dravet syndrome is a debilitating epileptic encephalopathy of childhood with few treatment options available in the United States before 2018. In the modern era, new genetic testing options will allow diagnosis closer to disease onset. Three new medicines-stiripentol, cannabidiol, and fenfluramine-have documented efficacy and safety as adjunctive therapies for treating pharmacoresistant Dravet syndrome. Early diagnosis resulting in earlier treatment with these and other medications may improve prognosis of long-term outcomes, including less severity of cognitive, motor, and behavioral impairments...
June 2020: Pediatric Neurology
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