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Neurology. Genetics

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https://www.readbyqxmd.com/read/28913435/iba57-mutations-abrogate-iron-sulfur-cluster-assembly-leading-to-cavitating-leukoencephalopathy
#1
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, Satoru Noguchi, Satomi Mitsuhashi, Yukari Endo, Yukiko K Hayashi, Yoshiaki Saito, Eiji Nakagawa, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Ikuya Nonaka, Yu-Ichi Goto, Ichizo Nishino
OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#2
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852708/a-novel-intronic-mutation-in-mtm1-detected-by-rna-analysis-in-a-case-of-x-linked-myotubular-myopathy
#3
Aqeela Al-Hashim, Hernan D Gonorazky, Kimberly Amburgey, Soma Das, James J Dowling
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852707/design-and-rationale-for-examining-neuroimaging-genetics-in-ischemic-stroke-the-mri-genie-study
#4
Anne-Katrin Giese, Markus D Schirmer, Kathleen L Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J R J Bouts, Elissa C McIntosh, Steven J Mocking, Adrian V Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W Cole, Patrick F McArdle, Joseph P Broderick, Jordi Jimenez-Conde, Christina Jern, Brett M Kissela, Dawn O Kleindorfer, Robin Lemmens, Arne Lindgren, James F Meschia, Tatjana Rundek, Ralph L Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B Worrall, Steven J Kittner, Braxton D Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S Rost
OBJECTIVE: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. METHODS: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28852706/ultra-rare-mutations-in-srcap-segregate-in-caribbean-hispanic-families-with-alzheimer-disease
#5
Badri N Vardarajan, Giuseppe Tosto, Roger Lefort, Lei Yu, David A Bennett, Philip L De Jager, Sandra Barral, Dolly Reyes-Dumeyer, Peter L Nagy, Joseph H Lee, Rong Cheng, Martin Medrano, Rafael Lantigua, Ekaterina Rogaeva, Peter St George-Hyslop, Richard Mayeux
OBJECTIVE: To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families. METHODS: Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without APOE ε4 homozygous carriers. Rare coding mutations segregating in families were subsequently genotyped in additional families and in an independent cohort of Caribbean Hispanic patients and controls. SRCAP messenger RNA (mRNA) expression was assessed in whole blood from mutation carriers with LOAD, noncarriers with LOAD, and healthy elderly controls, and also from autopsied brains in 2 clinical neuropathologic cohort studies of aging and dementia...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28815208/novel-polg-variants-associated-with-late-onset-de-novo-status-epilepticus-and-progressive-ataxia
#6
Yi Shiau Ng, Helen Powell, Nigel Hoggard, Doug M Turnbull, Robert W Taylor, Marios Hadjivassiliou
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28815207/novel-ampd2-mutation-in-pontocerebellar-hypoplasia-dysmorphisms-and-teeth-abnormalities
#7
Andrea Accogli, Michele Iacomino, Francesca Pinto, Alessandro Orsini, Maria Stella Vari, Raed Selmi, Annalaura Torella, Vincenzo Nigro, Carlo Minetti, Mariasavina Severino, Pasquale Striano, Valeria Capra, Federico Zara
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28808687/whole-exome-sequencing-associates-novel-csmd1-gene-mutations-with-familial-parkinson-disease
#8
Javier Ruiz-Martínez, Luis J Azcona, Alberto Bergareche, Jose F Martí-Massó, Coro Paisán-Ruiz
OBJECTIVE: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases. METHODS: In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28840193/what-does-phenotype-have-to-do-with-it
#9
EDITORIAL
Stefan M Pulst
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28812062/clinical-and-experimental-studies-of-a-novel-p525r-fus-mutation-in-amyotrophic-lateral-sclerosis
#10
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St Clair, Edward J Kasarskis, Haining Zhu
OBJECTIVE: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models. METHODS: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#11
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28804759/updated-nomenclature-for-human-and-mouse-neurofibromatosis-type-1-genes
#12
Corina Anastasaki, Lu Q Le, Robert A Kesterson, David H Gutmann
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28804758/brain-calcifications-and-pcdh12-variants
#13
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, Roberta R Lemos, Joana Ferreira, Denis Moura, Maria J Sobrido, Anne-Claire Richard, Alma Rosa Lopez, Andrea Legati, Jean-François Deleuze, Anne Boland, Olivier Quenez, Pierre Krystkowiak, Pascal Favrole, Daniel H Geschwind, Adi Aran, Reeval Segel, Ephrat Levy-Lahad, Dennis W Dickson, Giovanni Coppola, Rosa Rademakers, João R M de Oliveira
OBJECTIVE: To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS: We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC). RESULTS: We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28785732/novel-fukutin-mutations-in-limb-girdle-muscular-dystrophy-type-2m-with-childhood-onset
#14
Mateja Smogavec, Jana Zschüntzsch, Wolfram Kress, Julia Mohr, Peter Hellen, Barbara Zoll, Silke Pauli, Jens Schmidt
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28761931/unc5c-variants-are-associated-with-cerebral-amyloid-angiopathy
#15
Hyun-Sik Yang, Charles C White, Lori B Chibnik, Hans-Ulrich Klein, Julie A Schneider, David A Bennett, Philip L De Jager
OBJECTIVE: To determine whether common genetic variants in UNC5C, a recently identified late-onset Alzheimer disease (LOAD) dementia susceptibility gene, are associated with AD susceptibility or AD-related clinical/pathologic phenotypes. METHODS: We used data from deceased individuals of European descent who participated in the Religious Orders Study or the Rush Memory and Aging Project (n = 1,288). We examined whether there were associations between single nucleotide polymorphisms (SNPs) within ±100 kb of the UNC5C gene and a diagnosis of AD dementia, global cognitive decline, a pathologic diagnosis of AD, β-amyloid load, neuritic plaque count, diffuse plaque count, paired helical filament tau density, neurofibrillary tangle count, and cerebral amyloid angiopathy (CAA) score...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28761930/prevalence-of-spinocerebellar-ataxia-36-in-a-us-population
#16
Juliana M Valera, Tatyana Diaz, Lauren E Petty, Beatriz Quintáns, Zuleima Yáñez, Eric Boerwinkle, Donna Muzny, Dmitry Akhmedov, Rebecca Berdeaux, Maria J Sobrido, Richard Gibbs, James R Lupski, Daniel H Geschwind, Susan Perlman, Jennifer E Below, Brent L Fogel
OBJECTIVE: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. METHODS: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28748215/this-variant-alters-protein-function-but-is-it-pathogenic
#17
EDITORIAL
Massimo Pandolfo
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28748214/functionally-pathogenic-ears2-variants-in-vitro-may-not-manifest-a-phenotype-in-vivo
#18
Nathan McNeill, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, Daniele Ghezzi
OBJECTIVE: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC). METHODS: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity. RESULTS: Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28740869/comparing-sequencing-assays-and-human-machine-analyses-in-actionable-genomics-for-glioblastoma
#19
Kazimierz O Wrzeszczynski, Mayu O Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Vladimir Vacic, Raquel Norel, Erhan Bilal, Ewa A Bergmann, Julia L Moore Vogel, Jeffrey N Bruce, Andrew B Lassman, Peter Canoll, Christian Grommes, Steve Harvey, Laxmi Parida, Vanessa V Michelini, Michael C Zody, Vaidehi Jobanputra, Ajay K Royyuru, Robert B Darnell
OBJECTIVE: To analyze a glioblastoma tumor specimen with 3 different platforms and compare potentially actionable calls from each. METHODS: Tumor DNA was analyzed by a commercial targeted panel. In addition, tumor-normal DNA was analyzed by whole-genome sequencing (WGS) and tumor RNA was analyzed by RNA sequencing (RNA-seq). The WGS and RNA-seq data were analyzed by a team of bioinformaticians and cancer oncologists, and separately by IBM Watson Genomic Analytics (WGA), an automated system for prioritizing somatic variants and identifying drugs...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#20
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
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