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Mara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, Sébastien Moutton, Els A J Peeters, Camille Maillard, Jean Michel Pedespan, Anne-Marie Guerrot, Valérie Drouin-Garaud, Christine Coubes, David Genevieve, Christine Bole-Feysot, Cecile Fourrage, Julie Steffann, Nadia Bahi-Buisson
Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. In parallel, we re-evaluated the two previously reported cases showing de novo mutations of the same residues...
October 17, 2016: Neurogenetics
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
October 10, 2016: Neurogenetics
Oliver Kaut, Ina Schmitt, Jörg Tost, Florence Busato, Yi Liu, Per Hofmann, Stephanie H Witt, Marcella Rietschel, Holger Fröhlich, Ullrich Wüllner
Numerous studies have elucidated the genetics of Parkinson's disease; however, the aetiology of the majority of sporadic cases has not yet been resolved. We hypothesized that epigenetic variations could be associated with PD and evaluated the DNA methylation pattern in PD patients compared to brothers or twins without PD. The methylation of DNA from peripheral blood mononuclear cells of 62 discordant siblings including 24 monozygotic twins was characterized with Illumina DNA Methylation 450K bead arrays and subsequently validated in two independent cohorts: 221 PD vs...
October 6, 2016: Neurogenetics
Kishore R Kumar, G M Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M Sue, Mark J Cowley
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach...
October 2016: Neurogenetics
Elena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, Antoni Matilla-Dueñas, María Teresa García-Silva, Pilar Quijada-Fraile, Marc Corral-Juan, Pilar Tejada-Palacios, Rogelio Simón de Las Heras, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c...
October 2016: Neurogenetics
Valentina La Cognata, Giovanna Morello, Giulia Gentile, Velia D'Agata, Chiara Criscuolo, Francesca Cavalcanti, Sebastiano Cavallaro
Parkinson's disease (PD), the second most common progressive neurodegenerative disorder, was long believed to be a non-genetic sporadic syndrome. Today, only a small percentage of PD cases with genetic inheritance patterns are known, often complicated by reduced penetrance and variable expressivity. The few well-characterized Mendelian genes, together with a number of risk factors, contribute to the major sporadic forms of the disease, thus delineating an intricate genetic profile at the basis of this debilitating and incurable condition...
October 2016: Neurogenetics
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Rachel Straussberg
Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis)...
October 2016: Neurogenetics
Maher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, Motee Ashhab, Adri M Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg
DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegeneration and impaired NER. Using exome sequencing, we identified a homozygous deleterious mutation, c.648delAG, in the PARP10 gene, in a patient suffering from severe developmental delay. In agreement, PARP10 protein was absent from the patient cells...
October 2016: Neurogenetics
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No abstract text is available yet for this article.
October 2016: Neurogenetics
Ivan B Filippenkov, Eugene O Kalinichenko, Svetlana A Limborska, Lyudmila V Dergunova
Circular RNAs (circRNAs) provide a new and relatively unexplored class of noncoding RNAs that are predominantly found in mammalian cells. In this review, we present the latest data regarding the structural organization, possible mechanisms of synthesis, and functions of circRNAs. These transcripts were isolated as an RNA fraction that was resistant to RNase R treatment, which selectively destroys the linear forms of RNA molecules. circRNAs are encoded by orthologous genes in different organisms and show tissue- and organ-specific expression...
July 23, 2016: Neurogenetics
Alessia Micalizzi, Isabella Moroni, Monia Ginevrino, Tommaso Biagini, Tommaso Mazza, Marta Romani, Enza Maria Valente
Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES. Only two families have been reported harbouring homozygous missense mutations, both with a similarly severe phenotype. We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p...
July 2016: Neurogenetics
Jinyoung Lee, Samuel M Peterson, Jennifer L Freeman
No abstract text is available yet for this article.
July 2016: Neurogenetics
Ronen Spiegel, Avraham Shaag, Stavit Shalev, Orly Elpeleg
Febrile-induced neurodegenerative diseases are a heterogeneous group of genetic disorders most commonly inborn errors of metabolism that result in irreversible damage involving the central nervous system. Here, we report on five siblings of consanguineous family who developed normally for the first 6-12 months of life then presented with a severe leukoencephalopathy following a trivial febrile illness. Using homozygosity mapping followed by whole exome sequencing, we identified a homozygous c. 281C>A mutation in the APOA1BP gene resulting in substitution of a highly conserved alanine residue with aspartic acid (p...
July 2016: Neurogenetics
Fedor A Platonov, Kathrin Tyryshkin, Dmitriy G Tikhonov, Tatyana S Neustroyeva, Tatyana M Sivtseva, Natalya V Yakovleva, Valerian P Nikolaev, Oksana G Sidorova, Sardana K Kononova, Lev G Goldfarb, Neil M Renwick
Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with low-medium (39-55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1...
July 2016: Neurogenetics
David B Beck, Megan T Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O'Connor, Marwan Shinawi, Anne M Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K Chung
Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways...
July 2016: Neurogenetics
Roman Tatura, Malte Buchholz, Dennis W Dickson, John van Swieten, Catriona McLean, Günter Höglinger, Ulrich Müller
Progressive supranuclear palsy is a sporadic neurodegenerative disorder. Genetic, environmental, and possibly epigenetic factors contribute to disease. In order to better understand the potential role of epigenetic changes in progressive supranuclear palsy, we investigated whether some microRNAs and their target genes are dysregulated. We analyzed expression of 372 well-characterized microRNAs in forebrains of a total of 40 patients and of 40 controls using TaqMan arrays and SYBR Green quantitative real-time PCR...
July 2016: Neurogenetics
Hallie Steinfeld, Megan T Cho, Kyle Retterer, Rick Person, G Bradley Schaefer, Noelle Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G Wheeler, Koen L I van Gassen, P A Terhal, Virginie J M Verhoeven, Marjon A van Slegtenhorst, Kristin G Monaghan, Lindsay B Henderson, Wendy K Chung
Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay...
July 2016: Neurogenetics
L Tagliafierro, O Chiba-Falek
Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed by aggregates of alpha-synuclein protein. Accumulating evidence, including genome wide association studies, has implicated alpha-synuclein (SNCA) gene in the etiology of synucleinopathies. However, the precise variants within SNCA gene that contribute to the sporadic forms of Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and other synucleinopathies and their molecular mechanisms of action remain elusive...
July 2016: Neurogenetics
Nicola Bliim, Iryna Leshchyns'ka, Vladimir Sytnyk, Michael Janitz
Long-term potentiation (LTP), the persistent strengthening of synapses following high levels of stimulation, is a form of synaptic plasticity that has been studied extensively as a possible mechanism for learning and memory formation. The strengthening of the synapse that occurs during LTP requires cascades of complex molecular processes and the coordinated remodeling of pre-synaptic and post-synaptic neurons. Despite over four decades of research, our understanding of the transcriptional mechanisms and molecular processes underlying LTP remains incomplete...
June 18, 2016: Neurogenetics
Simon Edvardson, Yael Elbaz-Alon, Chaim Jalas, Ashanti Matlock, Krishna Patel, Katherine Labbé, Avraham Shaag, Jane E Jackman, Orly Elpeleg
Autosomal-recessive cerebellar atrophy is usually associated with inactivating mutations and early-onset presentation. The underlying molecular diagnosis suggests the involvement of neuronal survival pathways, but many mechanisms are still lacking and most patients elude genetic diagnosis. Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI...
June 15, 2016: Neurogenetics
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