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Neurology. Genetics

John K L Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H T Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S Cherny
Objective: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited...
June 2018: Neurology. Genetics
Pasquale Striano, Carlo Nobile
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
Niraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J Yousefzadeh, Erin A Wade, Laura J Niedernhofer, May Christine V Malicdan, Kenneth H Kraemer, William A Gahl, Camilo Toro
Objective: To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting. Methods: We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F. Results: Both patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms...
June 2018: Neurology. Genetics
Markus T Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Objective: We used patient-specific neuronal cultures to characterize the molecular genetic mechanism of recessive nonsense mutations in neurofilament light ( NEFL ) underlying early-onset Charcot-Marie-Tooth (CMT) disease. Methods: Motor neurons were differentiated from induced pluripotent stem cells of a patient with early-onset CMT carrying a novel homozygous nonsense mutation in NEFL . Quantitative PCR, protein analytics, immunocytochemistry, electron microscopy, and single-cell transcriptomics were used to investigate patient and control neurons...
June 2018: Neurology. Genetics
(no author information available yet)
[This corrects the article on p. e232 in vol. 4, PMID: 29629410.].
June 2018: Neurology. Genetics
Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W Scherer, Berge A Minassian
Objective: To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. Methods: Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rare variants were prioritized for interpretation with respect to the phenotype. Results: A previously undescribed, 1-kb homozygous deletion was identified in both individuals sequenced, which spanned 2 exons of the VPS13A gene, and was found to segregate in other family members...
June 2018: Neurology. Genetics
Marie Ryan, Mark Heverin, Mark A Doherty, Nicola Davis, Emma M Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Objective: To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment. Methods: Population-based data collected over 23 years, using the Irish amyotrophic lateral sclerosis (ALS) register and DNA biobank, were analyzed and age-standardized rates of FALS and associated familial neuropsychiatric endophenotypes were identified. Results: Between 1994 and 2016, 269 patients with a family history of ALS from 197 unique families were included on the register...
June 2018: Neurology. Genetics
Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui
Objective: To investigate the genetic contribution of ANXA11 , a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia. Methods: Sequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR...
June 2018: Neurology. Genetics
Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic
Objective: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. Results: Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases-ranging from 0...
June 2018: Neurology. Genetics
Kathie Ngo, Mamdouh Aker, Lauren E Petty, Jason Chen, Francesca Cavalcanti, Alexandra B Nelson, Sharon Hassin-Baer, Michael D Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E Below, Brent L Fogel
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L P Thompson
Objective: To document the complex "diagnostic odyssey" of patients with mitochondrial disease. Methods: We analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease, or their caregivers. Results: Participants saw an average of 8.19 clinicians (SD 8.0, median 5). The first clinician consulted about symptoms was typically a primary care physician (56...
April 2018: Neurology. Genetics
Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani
Objective: Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course. Methods: A 24-year-old woman developed, by the age of 3 years, all the classic symptoms of AT associated with increased alpha-fetoprotein levels, a compound AT-mutated ( ATM ) genotype with an inframe deletion c...
April 2018: Neurology. Genetics
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
Claire G Salter, Danique Beijer, Holly Hardy, Katy E S Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A Russell, Meriel M McEntagart, Barry A Chioza, Randy D Blakely, John K Chilton, Jan De Bleecker, Jonathan Baets, Emma L Baple, David Walk, Andrew H Crosby
Objective: To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). Methods: The first family comprises individuals affected by dHMN type V, which lacks the cardinal clinical feature of vocal cord paralysis characteristic of dHMN-VII observed in the second family. Next-generation sequencing was performed on the proband of each family. Variants were annotated and filtered, initially focusing on genes associated with neuropathy...
April 2018: Neurology. Genetics
Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
Jason Margolesky, Mario Saporta
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G Schneider, Matthias Riemenschneider
Objective: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. Methods: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by Sanger sequencing using standard protocols. Results: We identified 2 rare ABCA7 variants (rs143718918 and rs538591288) with varying penetrance in 2 independent German AD families, respectively...
April 2018: Neurology. Genetics
Christian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F J van IJcken, Meike W Vernooij, Amalia M Dolga, Femke M S de Vrij, Vincenzo Bonifati, Steven A Kushner
Objective: To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods: Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results: A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly...
April 2018: Neurology. Genetics
Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
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