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Neurology. Genetics

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https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#1
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28265589/novel-gbe1-mutation-in-a-japanese-family-with-adult-polyglucosan-body-disease
#2
Yasuo Harigaya, Takashi Matsukawa, Yukio Fujita, Kazuyuki Mizushima, Hiroyuki Ishiura, Jun Mitsui, Shinichi Morishita, Mikio Shoji, Yoshio Ikeda, Shoji Tsuji
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28243630/redefining-the-phenotype-of-alsp-and-aars2-mutation-related-leukodystrophy
#3
REVIEW
Rahul Lakshmanan, Matthew E Adams, David S Lynch, Justin A Kinsella, Rahul Phadke, Jonathan M Schott, Elaine Murphy, Jonathan D Rohrer, Jeremy Chataway, Henry Houlden, Nick C Fox, Indran Davagnanam
OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy (AARS2-L), and highlight key differentiating features. METHODS: ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28210710/microangiopathy-in-primary-familial-brain-calcification-evidence-from-skin-biopsies
#4
Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28251178/2016-in-review-and-message-from-the-editors-to-our-reviewers
#5
EDITORIAL
Stefan M Pulst, Nicholas Elwood Johnson, Alexandra Durr, Massimo Pandolfo, Raymond P Roos, Jeffery M Vance
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28180185/precision-therapy-for-a-new-disorder-of-ampa-receptor-recycling-due-to-mutations-in-atad1
#6
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, Matthew A Deardorff, Alisha B Wilkens, Laura K Conlin, Avni B Santani, Addie Nesbitt, Jane Juulsola, Erica Ma, Ted M Dawson, Valina L Dawson, Eric D Marsh
OBJECTIVE: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS: Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder characterized by hypertonia, seizures, and death in a consanguineous family...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#7
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28144627/phenytoin-responsive-epileptic-encephalopathy-with-a-tandem-duplication-involving-fgf12
#8
Rui-Ming Shi, Tomoko Kobayashi, Atsuo Kikuchi, Ryo Sato, Mitsugu Uematsu, Kumiko An, Shigeo Kure
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28105467/mapt-association-with-rem-sleep-behavior-disorder
#9
Rubén Fernández-Santiago, Alex Iranzo, Carles Gaig, Mónica Serradell, Manel Fernández, Pau Pastor, Eduardo Tolosa, Joan Santamaría, Mario Ezquerra
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28097225/centrally-involved-x-linked-charcot-marie-tooth-disease-presenting-as-a-stroke-mimic
#10
Patrick D Nicholson, Stefan M Pulst
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28097224/everolimus-does-not-prevent-lafora-body-formation-in-murine-lafora-disease
#11
Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A Minassian
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28097223/abca7-loss-of-function-variants-expression-and-neurologic-disease-risk
#12
Mariet Allen, Sarah J Lincoln, Morgane Corda, Jens O Watzlawik, Minerva M Carrasquillo, Joseph S Reddy, Jeremy D Burgess, Thuy Nguyen, Kimberly Malphrus, Ronald C Petersen, Neill R Graff-Radford, Dennis W Dickson, Nilüfer Ertekin-Taner
OBJECTIVE: To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS: We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis groups...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28078323/genetic-architecture-of-age-related-cognitive-decline-in-african-americans
#13
Towfique Raj, Lori B Chibnik, Cristin McCabe, Andus Wong, Joseph M Replogle, Lei Yu, Sujuan Gao, Frederick W Unverzagt, Barbara Stranger, Jill Murrell, Lisa Barnes, Hugh C Hendrie, Tatiana Foroud, Anna Krichevsky, David A Bennett, Kathleen S Hall, Denis A Evans, Philip L De Jager
OBJECTIVE: To identify genetic risk factors associated with susceptibility to age-related cognitive decline in African Americans (AAs). METHODS: We performed a genome-wide association study (GWAS) and an admixture-mapping scan in 3,964 older AAs from 5 longitudinal cohorts; for each participant, we calculated a slope of an individual's global cognitive change from neuropsychological evaluations. We also performed a pathway-based analysis of the age-related cognitive decline GWAS...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27957548/a-novel-wdr45-mutation-in-a-patient-with-%C3%AE-propeller-protein-associated-neurodegeneration
#14
DonRaphael P Wynn, Stefan M Pulst
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.(1) Brain MRI studies consistently demonstrate iron accumulation in the globus pallidus and substantia nigra with a subset of patients also demonstrating a halo of hyperintense signal surrounding a thin region of hypointense signal in the substantia nigra on T1-weighted imaging...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27957547/clinical-and-genetic-study-of-hereditary-spastic-paraplegia-in-canada
#15
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani, Heather MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M Boycott, Dimitri J Stavropoulos, Patrick A Dion, Peter N Ray, Oksana Suchowersky, Guy A Rouleau, Grace Yoon
OBJECTIVE: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. METHODS: We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27878137/mitochondrial-cytopathy-with-common-melas-mutation-presenting-as-multiple-system-atrophy-mimic
#16
Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.(2) The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.(2).
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#17
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.(1,2) About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.(2) The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27872899/de-novo-fgf12-mutation-in-2-patients-with-neonatal-onset-epilepsy
#18
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos
OBJECTIVE: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. METHODS: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to affected siblings in the original report. RESULTS: We identified the same FGF12 de novo mutation reported previously (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#19
Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini, Guido Rubboli, Gregory M Cooper, Stéphanie Baulac
OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27830186/copy-number-analysis-reveals-a-novel-multiexon-deletion-of-the-colq-gene-in-congenital-myasthenia
#20
Wei Wang, Yanhong Wu, Chen Wang, Jinsong Jiao, Christopher J Klein
Congenital myasthenic syndrome (CMS) is genetically and clinically heterogeneous.(1) Despite a considerable number of causal genes discovered, many patients are left without a specific diagnosis after genetic testing. The presumption is that novel genes yet to be discovered will account for the majority of such patients. However, it is also possible that we are neglecting a type of genetic variation: copy number changes (>50 bp) as causal for some of these patients. Next-generation sequencing (NGS) can simultaneously screen all known causal genes(2) and is increasingly being validated to have a potential to identify copy number changes...
December 2016: Neurology. Genetics
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