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Neurogenetics

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https://www.readbyqxmd.com/read/29992365/correction-to-incidental-diagnosis-of-tuberous-sclerosis-complex-by-exome-sequencing-in-three-families-with-subclinical-findings
#1
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, M Ilyas, K Engleman, A Abdelmoity, C J Saunders
The published online version contain mistake in the author list. Instead of "A.M.Ilyas" it should have been "M.Ilyas ".
July 11, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29982879/fus-1-359-transgenic-mice-as-a-model-of-als-pathophysiological-and-molecular-aspects-of-the-proteinopathy
#2
Sergei Y Funikov, Alexander P Rezvykh, Pavel V Mazin, Alexey V Morozov, Andrey V Maltsev, Maria M Chicheva, Ekaterina A Vikhareva, Mikhail B Evgen'ev, Aleksey A Ustyugov
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that leads to the eventual death of motor neurons. Described cases of familial ALS have emphasized the significance of protein misfolding and aggregation of two functionally related proteins, FUS (fused in sarcoma) and TDP-43, implicated in RNA metabolism. Herein, we performed a comprehensive analysis of the in vivo model of FUS-mediated proteinopathy (ΔFUS(1-359) mice). First, we used the Noldus CatWalk system and confocal microscopy to determine the time of onset of the first clinical symptoms and the appearance of FUS-positive inclusions in the cytoplasm of neuronal cells...
July 7, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29971521/r106c-tfg-variant-causes-infantile-neuroaxonal-dystrophy-plus-syndrome
#3
A Catania, R Battini, T Pippucci, R Pasquariello, M L Chiapparini, M Seri, B Garavaglia, G Zorzi, N Nardocci, D Ghezzi, V Tiranti
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi apparatus. The homozygous variant c.316C > T within TFG has been previously associated with a complicated hereditary spastic paraplegia (HSP) phenotype in two unrelated Indian families. Here, we describe the first Italian family with two affected siblings harboring the same variant, who in childhood were classified as infantile neuroaxonal dystrophy (INAD) based on clinical and neuropathological findings...
July 3, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29926239/incidental-diagnosis-of-tuberous-sclerosis-complex-by-exome-sequencing-in-three-families-with-subclinical-findings
#4
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, A M Ilyas, K Engleman, A Abdelmoity, C J Saunders
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3...
June 20, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29948376/clinical-and-genetic-study-of-tunisian-families-with-genetic-generalized-epilepsy-contribution-of-cacna1h-and-mast4-genes
#5
Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider, Eric Leguern
Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult...
June 12, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29846820/whole-exome-sequencing-in-dandy-walker-variant-with-intellectual-disability-reveals-an-activating-cip2a-mutation-as-novel-genetic-cause
#6
Chin-An Yang, I-Ching Chou, Der-Yang Cho, Chien-Yu Lin, Hsi-Yuan Huang, Yu-Chen Ho, Ting-Yuan Liu, Ying-Hsuan Li, Jan-Gowth Chang
Dandy-Walker malformation (DWM) has been reported to have heterogeneous causes, including mutations in genes of fibroblast growth factors and in genes in the sonic hedgehog (Shh) signaling pathway. Here, we identified an activating cancerous inhibitor of protein phosphatase 2A (CIP2A) p.D269V mutation, located at the predicted protein-protein interaction groove, as a novel genetic cause of Dandy-Walker variant (DWV). CIP2A has been reported as an oncoprotein promoting tumor survival via inhibition of protein phosphatase 2A (PP2A)...
May 30, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29808465/a-novel-missense-variant-in-the-sdr-domain-of-the-wwox-gene-leads-to-complete-loss-of-wwox-protein-with-early-onset-epileptic-encephalopathy-and-severe-developmental-delay
#7
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, Kristin Bokelmann, Markus A Schirmer, Jonas Denecke, René Santer
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of one patient. Transcription and translation were assessed by quantitative real-time PCR and Western blotting...
May 28, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29754261/compound-heterozygous-mutations-in-two-different-domains-of-aldh18a1-do-not-affect-the-amino-acid-levels-in-a-patient-with-hereditary-spastic-paraplegia
#8
Maria Steenhof, Maria Kibæk, Martin J Larsen, Mette Christensen, Allan Meldgaard Lund, Klaus Brusgaard, Jens Michael Hertz
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid levels are affected. Mutations affecting the G5K domain have previously been found to cause reduced plasma levels of proline, citrulline and arginine, whereas such effect is not seen with mutations affecting the GR5P domain...
May 12, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29730780/toward-deciphering-the-mechanistic-role-of-variations-in-the-rep1-repeat-site-in-the-transcription-regulation-of-snca-gene
#9
A Afek, L Tagliafierro, O C Glenn, D B Lukatsky, R Gordan, O Chiba-Falek
Short structural variants-variants other than single nucleotide polymorphisms-are hypothesized to contribute to many complex diseases, possibly by modulating gene expression. However, the molecular mechanisms by which noncoding short structural variants exert their effects on gene regulation have not been discovered. Here, we study simple sequence repeats (SSRs), a common class of short structural variants. Previously, we showed that repetitive sequences can directly influence the binding of transcription factors to their proximate recognition sites, a mechanism we termed non-consensus binding...
May 5, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29691679/the-impact-of-next-generation-sequencing-on-the-diagnosis-of-pediatric-onset-hereditary-spastic-paraplegias-new-genotype-phenotype-correlations-for-rare-hsp-related-genes
#10
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D'Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients showed that, by means of current technologies, the percentage of genetically solved cases is close to 50%. Notably, the percentage of molecularly confirmed diagnoses decreases significantly in sporadic patients. To describe our diagnostic molecular genetic approach on patients with pediatric-onset pure and complex HSP, 47 subjects with HSP underwent molecular screening of 113 known and candidate disease genes by targeted capture and massively parallel sequencing...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29589152/genetic-test-utilization-and-diagnostic-yield-in-adult-patients-with-neurological-disorders
#11
Tanya M Bardakjian, Ingo Helbig, Colin Quinn, Lauren B Elman, Leo F McCluskey, Steven S Scherer, Pedro Gonzalez-Alegre
To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29549527/in-vitro-efficacy-of-arq-092-an-allosteric-akt-inhibitor-on-primary-fibroblast-cells-derived-from-patients-with-pik3ca-related-overgrowth-spectrum-pros
#12
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29511999/med13l-related-intellectual-disability-involvement-of-missense-variants-and-delineation-of-the-phenotype
#13
T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29480378/reply-to-letter-to-editor-by-finsterer-j-and-zarrouk-mahjoub-s-phenotypic-manifestations-of-the-m-8969g-a-variant
#14
LETTER
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
No abstract text is available yet for this article.
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29480377/phenotypic-manifestations-of-the-m-8969g-a-variant
#15
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29423566/clinical-and-neuroimaging-features-of-autosomal-recessive-spastic-paraplegia-35-spg35-case-reports-new-mutations-and-brief-literature-review
#16
Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli
Spastic paraplegia 35 (SPG35) is a recessive condition characterized by childhood onset, progressive course, complicated by dystonia, dysarthria, cognitive impairment, and epilepsy. Mutations in the FA2H gene have been described in several families, leading to the proposal of a single entity, named fatty acid hydrolase-associated neurodegeneration (FAHN). Several reports have described a polymorphic radiological picture with white matter lesions of various degrees and a distinct form of neurodegeneration with brain iron accumulation...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29396836/wes-homozygosity-mapping-in-a-recessive-form-of-charcot-marie-tooth-neuropathy-reveals-intronic-gdap1-variant-leading-to-a-premature-stop-codon
#17
Marion Masingue, Jimmy Perrot, Robert-Yves Carlier, Guenaelle Piguet-Lacroix, Philippe Latour, Tanya Stojkovic
Charcot-Marie-Tooth disease (CMT) refers to a group of clinically and genetically heterogeneous inherited neuropathies. Ganglioside-induced differentiation-associated protein 1 GDAP1-related CMT has been reported in an autosomal dominant or recessive form in patients presenting either axonal or demyelinating neuropathy. We report two Sri Lankan sisters born to consanguineous parents and presenting with a severe axonal sensorimotor neuropathy. The early onset of the disease, the distal and proximal weakness and atrophy leading to major disability, along with areflexia, and, most notably, vocal cord and diaphragm paralysis were highly evocative of a GDAP1-related CMT...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29350304/defective-mitochondrial-atpase-due-to-rare-mtdna-m-8969g-a-mutation-causing-lactic-acidosis-intellectual-disability-and-poor-growth
#18
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G>A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability...
January 2018: Neurogenetics
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#19
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 2018: Neurogenetics
https://www.readbyqxmd.com/read/29260337/the-contribution-of-7q33-copy-number-variations-for-intellectual-disability
#20
Fátima Lopes, Fátima Torres, Sally Ann Lynch, Arminda Jorge, Susana Sousa, João Silva, Paula Rendeiro, Purificação Tavares, Ana Maria Fortuna, Patrícia Maciel
Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition...
January 2018: Neurogenetics
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