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  • What does a defect in N-glycosylation mean for neuronal migration and function?
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Alica M. Goldman

    Patients with epilepsy have not benefitted equally from the availability of next-generation sequencing. Although the diagnostic yield in epileptic encephalopathies is up to 50%, it is only approximately 12% in non-acquired focal epilepsies (NAFE).1 However, somatic mosaicism has emerged as an important cause of genetic causation in NAFE. This is hardly surprising, considering the scale of cellular

    更新日期:2020-07-08
  • SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Martin Paucar; Tobias Granberg; Kristina Lagerstedt-Robinson; Elisabet Waldenlind; Sven Petersson; Love Nordin; Per Svenningsson

    Familial hemiplegic migraine (FHM) is a group of rare familial disorders caused, in most cases, by mutations in CACNA1A and ATP1A2.1 Heterozygous mutations in solute carrier family 1 member 3 (SLC1A3), encoding glial glutamate transporter, are associated with episodic ataxia type 6 (EA6).2–5 In addition to episodic ataxia (EA), alternating hemiplegia and hemiplegic migraine have been reported twice

    更新日期:2020-07-08
  • APOE {epsilon}4 modifies the relationship between infectious burden and poor cognition
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Chen Zhao; Kevin Strobino; Yeseon Park Moon; Ying Kuen Cheung; Ralph L. Sacco; Yaakov Stern; Mitchell S.V. Elkind

    Objective We investigated whether APOE 4 is an effect modifier of the association between infectious burden (IB) and poor cognition in a multiethnic cohort, the Northern Manhattan Study. Methods IB was assessed by a quantitative weighted index of exposure to common pathogens associated with vascular risk, infectious burden index (IBI), and by serology for individual infections. Cognition was assessed

    更新日期:2020-07-08
  • SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Tommy Stödberg; Måns Magnusson; Nicole Lesko; Anna Wredenberg; Daniel Martin Munoz; Henrik Stranneheim; Anna Wedell

    Objective To describe the phenotype in 2 sisters with a rare constellation of neurologic symptoms and secretory impairments and to identify the etiology by the use of whole-genome sequencing (WGS). Methods After an extensive workup failed to reveal the cause of disease, in a girl with a previously not reported phenotype, WGS of the proband, her diseased older sister, an older healthy brother, and their

    更新日期:2020-07-03
  • Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Julia Pytte; Loren L. Flynn; Ryan S. Anderton; Frank L. Mastaglia; Frances Theunissen; Ian James; Abigail Pfaff; Sulev Koks; Ann M. Saunders; Richard Bedlack; Daniel K. Burns; Michael W. Lutz; Nailah Siddique; Teepu Siddique; Allen D. Roses; P. Anthony Akkari

    Objective To test the hypothesis that rs573116164 will have disease-modifying effects in patients with superoxide dismutase 1 (SOD1) familial amyotrophic lateral sclerosis (fALS), we characterized rs573116164 within a cohort of 190 patients with fALS and 560 healthy age-matched controls to assess the variant for association with various measures of disease. Methods Using a previously described bioinformatics

    更新日期:2020-07-01
  • Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Szabolcs Szelinger; Jonida Krate; Keri Ramsey; Samuel P. Strom; Perry B. Shieh; Hane Lee; Newell Belnap; Chris Balak; Ashley L. Siniard; Megan Russell; Ryan Richholt; Matt De Both; Ana M. Claasen; Isabelle Schrauwen; Stanley F. Nelson; Matthew J. Huentelman; David W. Craig; Samuel P. Yang; Steven A. Moore; Kumaraswamy Sivakumar; Vinodh Narayanan; Sampathkumar Rangasamy; on behalf of UCLA Clinical Genomics

    Objective Description of a new variant of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) gene causing congenital myasthenic syndrome (CMS) in 3 children from 2 unrelated families. Methods Muscle biopsies, EMG, and whole-exome sequencing were performed. Results All 3 patients presented with congenital hypotonia, muscle weakness, respiratory insufficiency, head lag, areflexia, and gastrointestinal

    更新日期:2020-06-30
  • Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Mohamed Kazamel; Michael A. Lopez; Martina Bebin; Kevin Bowling; Bruce R. Korf; Gregory S. Barsh; Gregory M. Cooper; Anna C.E. Hurst; Eroboghene E. Ubogu

    Fibulin-5 (FBLN5) is an extracellular matrix glycoprotein expressed in elastic fiber-rich tissues.1 Mutations affecting the first epidermal growth factor domain feature a spinal Charcot-Marie-Tooth (CMT) phenotype, whereas the C-terminus c.1117C>T variant causes demyelinating sensorimotor polyneuropathy.2 Besides CMT, FBLN5 mutations also feature age-related macular degeneration and cutis laxa.3 FBLN5-associated

    更新日期:2020-06-26
  • GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Matt Henry; John Kitchens; Juan M. Pascual; Ramiro S. Maldonado

    Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-function mutation in the SLC2A1 gene; in the others, brain fluorodeoxyglucose (FDG) PET can confirm the diagnosis.

    更新日期:2020-06-26
  • The Helix: Editorial Changes
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Stefan M. Pulst

    It gives me great pleasure to welcome Dr. Suman Jayadev to the group of Associate Editors of Neurology® Genetics. She is a board-certified neurologist and Assistant Professor of Neurology at the University of Washington. She runs an adult neurogenetics clinic at the University of Washington and is also the Clinical Core Leader of the University of Washington Alzheimer Disease Research Center. Her neurogenetics

    更新日期:2020-06-19
  • Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Katherine E. Miller; Daniel C. Koboldt; Kathleen M. Schieffer; Tracy A. Bedrosian; Erin Crist; Adrienne Sheline; Kristen Leraas; Vincent Magrini; Huachun Zhong; Patrick Brennan; Jocelyn Bush; James Fitch; Natalie Bir; Anthony R. Miller; Catherine E. Cottrell; Jeffrey Leonard; Jonathan A. Pindrik; Jerome A. Rusin; Summit H. Shah; Peter White; Richard K. Wilson; Elaine R. Mardis; Christopher R. Pierson;

    Objective Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subset of brain cells. We hypothesize that tissue-specific, somatic mosaicism represents an important genetic

    更新日期:2020-06-18
  • COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Carola Hedberg-Oldfors; Niklas Darin; Christer Thomsen; Christopher Lindberg; Anders Oldfors

    Objective To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. Methods The patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repeat muscle biopsies with biochemical, morphologic, and protein expression analyses were performed, and whole-genome

    更新日期:2020-06-16
  • Brainstem ischemic syndrome in juvenile NF2
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    John W. Henson; Tara Benkers; Connor McCormick

    Objective A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought. Methods Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase

    更新日期:2020-06-16
  • Expanded genetic insight and clinical experience of DNMT1-complex disorder
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Hongyan Bi; Kaori Hojo; Masashi Watanabe; Christina Yee; Kiran Maski; Sadaf Saba; Jonathan Graff-Radford; Mary M. Machulda; Erik K. St Louis; Ilona Spitsyna Humes; Eoin P. Flanagan; Stefan Nicolau; David T. Jones; Marc C. Patterson; Suresh Kotagal; Yael Raz; Zhiyv Niu; Jun Li; Christopher J. Klein

    Objective To report novel causal mutations, expanded clinical phenotypes, and clinical management of DNA methyltransferase 1 (DNMT1)-complex disorder. Methods Neurophysiologic testing, imaging, and genetic findings were summarized in clinical context for 5 cases with DNMT1-complex disorder. Results We identified 2 novel DNMT1 mutations (p.E510K and p.P1546A) by whole-exome sequencing (WES). Case 1

    更新日期:2020-06-13
  • Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Ying Hong; Annette Keylock; Barbara Jensen; Thomas S. Jacques; Olumide Ogunbiyi; Ebun Omoyinmi; Dawn Saunders; Andrew A. Mallick; Madeleine Tooley; Ruth Newbury-Ecob; Julia Rankin; Hywel J. Williams; Vijeya Ganesan; Paul A. Brogan; Despina Eleftheriou

    Objective To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. We hypothesized that mutated Cbl fails to act as a negative regulator of the RAS-mitogen-activated protein kinases (MAPK) signaling pathway, resulting in enhanced vascular fibroblast

    更新日期:2020-06-11
  • Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Violeta Mihaylova; Fabian Chablais; Yvan Herenger; Roland Spiegel; Hans Heinrich Jung

    Congenital myopathies (CMs) are a group of rare inherited myopathies most commonly presenting in infancy with hypotonia and weakness. They have been classified on the basis of distinctive myopathologic features. Mutations in more than 25 genes can cause CM.1

    更新日期:2020-06-10
  • Synonymous variants associated with Alzheimer disease in multiplex families
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Min Tang; Maria Eugenia Alaniz; Daniel Felsky; Badri Vardarajan; Dolly Reyes-Dumeyer; Rafael Lantigua; Martin Medrano; David A. Bennett; Philip L. de Jager; Richard Mayeux; Ismael Santa-Maria; Christiane Reitz

    Objective Synonymous variants can lead to disease; nevertheless, the majority of sequencing studies conducted in Alzheimer disease (AD) only assessed coding variation. Methods To detect synonymous variants modulating AD risk, we conducted a whole-genome sequencing study on 67 Caribbean Hispanic (CH) families multiply affected by AD. Identified disease-associated variants were further assessed in an

    更新日期:2020-06-09
  • A novel PRNP-G131R variant associated with familial prion disease
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Jumana T. Alshaikh; Kefeng Qin; Lili Zhao; James A. Mastrianni

    Roughly 40 autosomal dominant mutations of the prion protein gene (PRNP) cosegregate with familial Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, or Gerstmann-Sträussler-Scheinker disease (GSS).1,2 Genetic prion disease in African Americans is rarely reported. We sequenced the PRNP coding segment of a 43-year-old African American woman with rapidly progressive dementia and a positive family

    更新日期:2020-06-07
  • Genetic background of ataxia in children younger than 5 years in Finland
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Erika Ignatius; Pirjo Isohanni; Max Pohjanpelto; Päivi Lahermo; Simo Ojanen; Virginia Brilhante; Eino Palin; Anu Suomalainen; Tuula Lönnqvist; Christopher J. Carroll

    Objective To characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland. Methods This study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening

    更新日期:2020-06-07
  • A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Ilana Hanes; Hugh J. McMillan; Yoko Ito; Kristin D. Kernohan; Joanna Lazier; Matthew A. Lines; David A. Dyment

    ATAD3A is a mitochondrial AAA + ATPase protein localized between the inner and outer mitochondrial membrane1; its role includes the stabilization of mitochondrial DNA, the regulation of mitochondrial fission/fusion, and the regulation of cholesterol homeostasis.1,2 Harel-Yoon syndrome (HYS) can result from biallelic deletions in the ATAD3 gene cluster (containing ATAD3A, ATAD3B, and ATAD3C) and is

    更新日期:2020-06-05
  • Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-18
    Massimo Pandolfo,Myriam Rai,Gauthier Remiche,Laurence Desmyter,Isabelle Vandernoot

    Objective To describe the clinical and molecular genetic findings in a family segregating a novel mutation in the AIFM1 gene on the X chromosome. Methods We studied the clinical features and performed brain MRI scans, nerve conduction studies, audiometry, cognitive testing, and clinical exome sequencing (CES) in the proband, his mother, and maternal uncle. We used in silico tools, X chromosome inactivation

    更新日期:2020-06-02
  • Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-18
    Fatema Al Amrani,Carolina Gorodetsky,Lili-Naz Hazrati,Kimberly Amburgey,Hernan D Gonorazky,James J Dowling

    Congenital myopathies are clinically and genetically heterogeneous, resulting from mutations in at least 30 different genes.1 The classical presentation is neonatal hypotonia and nonprogressive weakness with normal creatine phosphokinase, although there is a broad range in terms of age at onset and clinical presentation. Historically, congenital myopathies have been defined and diagnosed based on muscle

    更新日期:2020-06-02
  • TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-18
    Yanxing Chen,Dengchang Wu,Benyan Luo,Guohua Zhao,Kang Wang

    Objective To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6. Methods Neurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Whole-exome sequencing and dynamic mutation analysis were performed to identify the genotype. Results The

    更新日期:2020-06-02
  • Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-08-01
    Rei Yasuda,Tomokatsu Yoshida,Ikuko Mizuta,Masashi Watanabe,Masakazu Nakano,Ryuichi Sato,Yuichi Tokuda,Natsue Omi,Norio Sakai,Masanori Nakagawa,Kei Tashiro,Toshiki Mizuno

    LAMB1 encodes laminin subunit beta 1, a constituent of the extracellular matrix glycoprotein of basement membranes.1 Mutations of LAMB1 have been reported in patients with congenital or infantile- to childhood-onset leukoencephalopathy and severe developmental retardation.2,3 We report an adulthood-onset case with mild leukoencephalopathy and a novel homozygous LAMB1 missense mutation. Our findings

    更新日期:2020-06-02
  • Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Valter Niemelä,Ammar Salih,Daniela Solea,Björn Lindvall,Jan Weinberg,Gabriel Miltenberger,Tobias Granberg,Aikaterini Tzovla,Love Nordin,Torsten Danfors,Irina Savitcheva,Niklas Dahl,Martin Paucar

    Objective To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden. Methods Clinical assessments, targeted genetic studies, neuroimaging with MRI, [18F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with 123I FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS). Results Four patients living in Sweden but

    更新日期:2020-06-01
  • Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Anasofia Elizondo-Plazas,Marisol Ibarra-Ramírez,Azalea Garza-Báez,Laura Elia Martínez-de-Villarreal

    Heterozygous germline mutations in mammalian target of rapamycin (MTOR) (OMIM 601231) are known to underlie Smith-Kingsmore syndrome (SKS; OMIM 616638), an infrequent entity with autosomal dominant inheritance, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (ORPHA 457485).1 Among the clinical features of SKS, the most common features include intellectual

    更新日期:2020-06-01
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Georgia Xiromerisiou; Chrysoula Marogianni; Katerina Dadouli; Christina Zompola; Despoina Georgouli; Antonios Provatas; Aikaterini Theodorou; Paschalis Zervas; Christina Nikolaidou; Stergios Stergiou; Panagiotis Ntellas; Maria Sokratous; Pantelis Stathis; Georgios P. Paraskevas; Anastasios Bonakis; Konstantinos Voumvourakis; Christos Hadjichristodoulou; Georgios M. Hadjigeorgiou; Georgios Tsivgoulis

    Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient. Methods Here, we describe the phenotype of a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) harboring a novel mutation. We also performed

    更新日期:2020-06-01
  • Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Stefanie Perrier; Laurence Gauquelin; Catherine Fallet-Bianco; Megan K. Dishop; Mackenzie A. Michell-Robinson; Luan T. Tran; Kether Guerrero; Lama Darbelli; Myriam Srour; Kevin Petrecca; Deborah L. Renaud; Michael Saito; Seth Cohen; Steffen Leiz; Bader Alhaddad; Tobias B. Haack; Ingrid Tejera-Martin; Fernando I. Monton; Norberto Rodriguez-Espinosa; Daniela Pohl; Savithri Nageswaran; Annette Grefe;

    Objective To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. Methods We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely

    更新日期:2020-06-01
  • Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Daniel O Claassen,Jody Corey-Bloom,E Ray Dorsey,Mary Edmondson,Sandra K Kostyk,Mark S LeDoux,Ralf Reilmann,H Diana Rosas,Francis Walker,Vicki Wheelock,Nenad Svrzikapa,Kenneth A Longo,Jaya Goyal,Serena Hung,Michael A Panzara

    Background The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments. Objective This prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG

    更新日期:2020-06-01
  • Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Dona Aboud Syriani; Darice Wong; Sameer Andani; Claudio M. De Gusmao; Yuanming Mao; May Sanyoura; Giacomo Glotzer; Paul J. Lockhart; Sharon Hassin-Baer; Vikram Khurana; Christopher M. Gomez; Susan Perlman; Soma Das; Brent L. Fogel

    Objective We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America. Methods A cohort of 596 predominantly adult-onset patients with undiagnosed familial or sporadic cerebellar ataxia was evaluated at a tertiary referral ataxia center and excluded for common genetic causes

    更新日期:2020-06-01
  • Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Sylvia M Boesch,Martha A Nance

    The ataxias comprise diseases of both genetic and nongenetic origin with extreme clinical and genetic heterogeneity. They may present as a pure cerebellar form or as part of a more complex neurologic syndrome. Progressive, neurodegenerative sporadic adult-onset ataxias (SAOAs) without a known cause have a prevalence rate of 2.2–12.4 per 100,000. In several ataxia cohorts, repetitive genetic screening

    更新日期:2020-06-01
  • Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Majida Charif,Arnaud Chevrollier,Naïg Gueguen,Céline Bris,David Goudenège,Valérie Desquiret-Dumas,Stéphanie Leruez,Estelle Colin,Audrey Meunier,Catherine Vignal,Vasily Smirnov,Sabine Defoort-Dhellemmes,Isabelle Drumare Bouvet,Cyril Goizet,Marcela Votruba,Neringa Jurkute,Patrick Yu-Wai-Man,Francesca Tagliavini,Leonardo Caporali,Chiara La Morgia,Valerio Carelli,Vincent Procaccio,Xavier Zanlonghi,Isabelle

    Objective To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations. Methods Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI. Results We identified 7 and 8 new heterozygous pathogenic variants

    更新日期:2020-06-01
  • Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Merel O Mol,Jeroen G J van Rooij,Esther Brusse,Annemieke J M H Verkerk,Shamiram Melhem,Wilfred F A den Dunnen,Patrizia Rizzu,Chiara Cupidi,John C van Swieten,Laura Donker Kaat

    Objective To describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1 mutation causing SCA48. Methods We report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and linkage analysis) were performed on multiple family members. Results Patients presented with adult-onset

    更新日期:2020-06-01
  • Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Annemarie C S Knijnenburg,Joost Nicolai,Levinus A Bok,Akin Bay,Alexander P A Stegmann,Margje Sinnema,Maaike Vreeburg

    Objective De novo missense mutations in the RHOBTB2 gene have been described as causative for developmental and epileptic encephalopathy. Methods The clinical phenotype of this disorder includes early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorder. Three RHOBTB2 patients have been described with acute encephalopathy and febrile epileptic status. All showed

    更新日期:2020-06-01
  • Polygenic risk scores of several subtypes of epilepsies in a founder population.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Claudia Moreau,Rose-Marie Rébillard,Stefan Wolking,Jacques Michaud,Frédérique Tremblay,Alexandre Girard,Joanie Bouchard,Berge Minassian,Catherine Laprise,Patrick Cossette,Simon L Girard

    Objective Polygenic risk scores (PRSs) are used to quantify the cumulative effects of a number of genetic variants, which may individually have a very small effect on susceptibility to a disease; we used PRSs to better understand the genetic contribution to common epilepsy and its subtypes. Methods We first replicated previous single associations using 373 unrelated patients. We then calculated PRSs

    更新日期:2020-06-01
  • Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Massimo Pandolfo

    Objective To investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales. Methods Clinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average

    更新日期:2020-06-01
  • Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-06-01
    Jared S Rosenblum,Anthony J Cappadona,Davis P Argersinger,Ying Pang,Herui Wang,Matthew A Nazari,Jeeva P Munasinghe,Danielle R Donahue,Abhishek Jha,James G Smirniotopoulos,Markku M Miettinen,Russell H Knutsen,Beth A Kozel,Zhengping Zhuang,Karel Pacak,John D Heiss

    Objective To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in EPAS1 gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia. Methods Patients referred to our institution

    更新日期:2020-06-01
  • Proceedings of the 26th International Stroke Genetics Consortium Workshop: St. Louis, MO
    Neurol. Genet. (IF 3.509) Pub Date : 2020-05-01
    Jin-Moo Lee; Carlos Cruchaga

    The 26th workshop of the International Stroke Genetics Consortium (ISGC) was held at the Four Seasons Hotel on November 2–4, 2019 in St. Louis, MO, and was hosted by Jin-Moo Lee, MD, PhD and Carlos Cruchaga, PhD, and co-hosted by Stephanie Debette, MD, PhD. The ISGC is an international collaboration of physicians and scientists who have agreed to pool resources and expertise in an effort to unravel

    更新日期:2020-05-01
  • Proceedings of the 25th International Stroke Genetics Consortium Workshop: Cambridge, UK
    Neurol. Genet. (IF 3.509) Pub Date : 2020-05-01
    Jemma C. Hopewell; Matthew Traylor; Hugh S. Markus

    The 25th workshop of the International Stroke Genetics Consortium (ISGC) was held at the beautiful and historic Queens' College, University of Cambridge, UK on April 10–12, 2019, and was hosted by Associate Professor Jemma C Hopewell, Dr Matthew Traylor, and Professor Hugh Markus, and co-hosted by Professor Jin-Moo Lee and Associate Professor Carlos Cruchaga. Herein, we present the Proceedings and

    更新日期:2020-05-01
  • Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Simone Baiardi; Romana Rizzi; Sabina Capellari; Anna Bartoletti-Stella; Andrea Zangrandi; Federico Gasparini; Enrico Ghidoni; Piero Parchi

    The p.D202N mutation in PRNP is a rare variant associated with Gerstmann-Sträussler-Scheinker disease (GSS), a genetic form of prion cerebral amyloidosis. To date, there have been only 4 reports of this mutation worldwide and only one detailed clinical study (table e-1, links.lww.com/NXG/A223).1–4 Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations

    更新日期:2020-04-01
  • Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Dong-Hui Chen; Caitlin Latimer; Mayumi Yagi; Mesaki Kenneth Ndugga-Kabuye; Elyana Heigham; Suman Jayadev; James S. Meabon; Christopher M. Gomez; C. Dirk Keene; David G. Cook; Wendy H. Raskind; Thomas D. Bird

    Objective To identify the genetic cause of autosomal dominant ataxia complicated by behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain neuropathologic signatures of dominant STUB1-related ataxia and investigate the effects of pathogenic variants on STUB1 localization. Methods Clinical and research-based exome sequencing was used to identify the causative

    更新日期:2020-04-01
  • Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Marie Beaudin; Leila Sellami; Christian Martel; Lydia Touzel-Deschênes; Gabrielle Houle; Laurence Martineau; Kevin Lacroix; Andréane Lavallée; Nicolas Chrestian; Guy A. Rouleau; François Gros-Louis; Robert Laforce; Nicolas Dupré

    Objective To better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by ELOVL4 mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin-derived fibroblasts. Methods We investigated a 5-generation French-Canadian kindred presenting with a late-onset cerebellar ataxia and recruited age-

    更新日期:2020-04-01
  • MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Viorica Chelban; Miryam Carecchio; Gillian Rea; Abdalla Bowirrat; Salman Kirmani; Luca Magistrelli; Stephanie Efthymiou; Lucia Schottlaender; Jana Vandrovcova; Vincenzo Salpietro; Ettore Salsano; Davide Pareyson; Luisa Chiapparini; Farida Jan; Shahnaz Ibrahim; Fatima Khan; Zul Qarnain; Stanislav Groppa; Nin Bajaj; Bettina Balint; Kailash P. Bhatia; Andrew Lees; Patrick J. Morrison; Nicholas W. Wood;

    Objective To identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations. Methods Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1. In-depth phenotyping and neuroimaging investigations

    更新日期:2020-04-01
  • ALS in Danish Registries: Heritability and links to psychiatric and cardiovascular disorders
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Betina B. Trabjerg; Fleur C. Garton; Wouter van Rheenen; Fang Fang; Robert D. Henderson; Preben Bo Mortensen; Esben Agerbo; Naomi R. Wray

    Objective To investigate the genetic contribution to amyotrophic lateral sclerosis (ALS) and the phenotypic and genetic associations between ALS and psychiatric and cardiovascular disorders (CVD) we used the national registry data from Denmark linked to first-degree relatives to estimate heritability and cross-trait parameters. Methods ALS cases and 100 sex and birth-matched controls per case from

    更新日期:2020-04-01
  • Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Maria Caputo; Vincenzo La Bella; Antonietta Notaro

    P525LFused-in-Sarcoma (FUS) mutation is associated with a specific amyotrophic lateral sclerosis (ALS) phenotype characterized by a juvenile-onset and a severe course.1 This harmful point mutation is located in the nuclear localization signal (NLS) domain at the protein C-terminal.2 Although wild-type FUS protein is expressed almost exclusively in the nucleus, the P525LFUS mutation leads to a protein

    更新日期:2020-04-01
  • Genetic testing utilization for patients with neurologic disease and the limitations of claims data
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Samuel J. Mackenzie; Chun Chieh Lin; Peter K. Todd; James F. Burke; Brian C. Callaghan

    Objective To determine the utilization of genetic testing in patients seen by a neurologist within a large private insurance population. Methods Using the Optum health care claims database, we identified a cross-sectional cohort of patients who had been evaluated by a neurologist no more than 30 days before initial genetic testing. Within this group, we then categorized genetic testing between 2014

    更新日期:2020-04-01
  • Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Julia Pytte; Ryan S. Anderton; Loren L. Flynn; Frances Theunissen; Leanne Jiang; Ianthe Pitout; Ian James; Frank L. Mastaglia; Ann M. Saunders; Richard Bedlack; Teepu Siddique; Nailah Siddique; P. Anthony Akkari

    Objective As structural variations may underpin susceptibility to complex neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), the objective of this study was to investigate a structural variant (SV) within sequestosome 1 (SQSTM1). Methods A candidate insertion/deletion variant within intron 5 of the SQSTM1 gene was identified using a previously established SV evaluation algorithm

    更新日期:2020-04-01
  • Heritability of cervical spinal cord structure.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Linda Solstrand Dahlberg,Olivia Viessmann,Clas Linnman

    Objective Measures of spinal cord structure can be a useful phenotype to track disease severity and development; this observational study measures the hereditability of cervical spinal cord anatomy and its correlates in healthy human beings. Methods Twin data from the Human Connectome Project were analyzed with semiautomated spinal cord segmentation, evaluating test-retest reliability and broad-sense

    更新日期:2020-04-01
  • Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Olivia V Poole,Alejandro Horga,Steven A Hardy,Enrico Bugiardini,Cathy E Woodward,Iain P Hargreaves,Ashirwad Merve,Rosaline Quinlivan,Robert W Taylor,Michael G Hanna,Robert D S Pitceathly

    Most pathogenic mitochondrial DNA (mtDNA) variants occur in the 22 mtDNA-encoded tRNA (mt-tRNA) genes. However, despite more than 270 reported mt-tRNA gene mutations, only 5 reside within mt-tRNAGly (MT-TG).1 We report a rare MT-TG variant and evaluate this, in addition to all previously reported MT-TG variants, against the published criteria used to help determine the pathogenicity of the mt-tRNA

    更新日期:2020-04-01
  • Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Thomas L Winder,Christopher A Tan,Sarah Klemm,Hannah White,Jody M Westbrook,James Z Wang,Ali Entezam,Rebecca Truty,Robert L Nussbaum,Elizabeth M McNally,Swaroop Aradhya

    Objective Molecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated the utility of genetic testing, comprehensive data sets are better positioned to assess the complexity of genetic analysis. Methods Using high depth-of-coverage

    更新日期:2020-04-01
  • Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Mariel G Kozberg,Susanne J van Veluw,Matthew P Frosch,Steven M Greenberg

    Objective We present here a case report of a patient with a family history of intracerebral hemorrhages (ICHs) who presented with multiple large lobar hemorrhages in rapid succession, with cognitive sparing, who was found to have a mutation in the β-amyloid coding sequence of amyloid precursor protein (Leu705Val), termed the Piedmont-type mutation, the second ever reported case of this form of hereditary

    更新日期:2020-04-01
  • Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Fanny Thuriot,Elaine Gravel,Caroline Buote,Marianne Doyon,Elvy Lapointe,Lydia Marcoux,Sandrine Larue,Amélie Nadeau,Sébastien Chénier,Paula J Waters,Pierre-Étienne Jacques,Serge Gravel,Sébastien Lévesque

    Objective To evaluate the diagnostic yield of an 89-gene panel in a large cohort of patients with suspected muscle disorders and to compare the diagnostic yield of gene panel and exome sequencing approaches. Methods We tested 1,236 patients from outpatient clinics across Canada using a gene panel and performed exome sequencing for 46 other patients with sequential analysis of 89 genes followed by all

    更新日期:2020-04-01
  • 4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Stephanie M DeGasperis,Geneviève Bernard,Nicole I Wolf,Elka Miller,Daniela Pohl

    Hypomyelinating leukodystrophy with hypodontia and hypogonadotropic hypogonadism (4H leukodystrophy), also known as POLR3-related leukodystrophy, is a genetic disorder caused by autosomal recessive mutations in the POLR3A, POLR3B, POLR1C, or POLR3K genes.1–3 Most patients have progressive motor deficits.4 We present 2 siblings with a milder phenotype and lack of disease progression previously reported

    更新日期:2020-04-01
  • Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Maria Empar Blanco-Cantó,Nikiben Patel,Sergio Velasco-Aviles,Angeles Casillas-Bajo,Juan Salas-Felipe,Alexandre García-Escrivá,Carmen Díaz-Marín,Hugo Cabedo

    Objective To identify novel genetic mechanisms causing Charcot-Marie-Tooth (CMT) disease. Methods We performed a next-generation sequencing study of 34 genes associated with CMT in a patient with peripheral neuropathy. Results We found a non–previously described mutation in EGR2 (p.P397H). P397H mutation is located within the loop that connects zinc fingers 2 and 3, a pivotal domain for the activity

    更新日期:2020-04-01
  • Use of local genetic ancestry to assess TOMM40-523' and risk for Alzheimer disease.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Parker L Bussies,Farid Rajabli,Anthony Griswold,Daniel A Dorfsman,Patrice Whitehead,Larry D Adams,Pedro R Mena,Michael Cuccaro,Jonathan L Haines,Goldie S Byrd,Gary W Beecham,Margaret A Pericak-Vance,Juan I Young,Jeffery M Vance

    Objective Here, we re-examine TOMM40-523' as a race/ethnicity-specific risk modifier for late-onset Alzheimer disease (LOAD) with adjustment for local genomic ancestry (LGA) in Apolipoprotein E (APOE) 4 haplotypes. Methods The TOMM40-523' size was determined by fragment analysis and whole genome sequencing in homozygous APOE 3 and APOE 4 haplotypes of African (AF) or European (EUR) ancestry. The risk

    更新日期:2020-04-01
  • Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-04-01
    Emanuele Barca,Yuelin Long,Victoria Cooley,Robert Schoenaker,Valentina Emmanuele,Salvatore DiMauro,Bruce H Cohen,Amel Karaa,Georgirene D Vladutiu,Richard Haas,Johan L K Van Hove,Fernando Scaglia,Sumit Parikh,Jirair K Bedoyan,Susanne D DeBrosse,Ralitza H Gavrilova,Russell P Saneto,Gregory M Enns,Peter W Stacpoole,Jaya Ganesh,Austin Larson,Zarazuela Zolkipli-Cunningham,Marni J Falk,Amy C Goldstein,Mark

    Objective To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry. Methods This cross-sectional, multicenter, retrospective database analysis evaluates the phenotypic and molecular characteristics of participants enrolled in the NAMDC Registry from September 2011 to December

    更新日期:2020-04-01
  • Erratum: Heritability of cervical spinal cord structure.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-03-18

    [This corrects the article DOI: 10.1212/NXG.0000000000000401.].

    更新日期:2020-03-18
  • Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-01-16
    Yukiko Matsuda,Hiroyuki Morino,Ryosuke Miyamoto,Takashi Kurashige,Kodai Kume,Noriyoshi Mizuno,Yuhei Kanaya,Yui Tada,Ryosuke Ohsawa,Kazunori Yokota,Nobuyuki Shimozawa,Hirofumi Maruyama,Hideshi Kawakami

    Objective To determine the genetic underpinnings of slowly progressive spinocerebellar ataxia, autosomal recessive (SCAR), we performed exome analysis and examined the relationship between clinical severity and functional change induced by the mutation. Methods Homozygosity fingerprinting and exome sequencing were performed to identify causative mutations in 2 consanguineous families. We assessed the

    更新日期:2020-01-16
  • Splitting vs lumping: Does the phenotype matter anymore?
    Neurol. Genet. (IF 3.509) Pub Date : 2020-01-13
    Steven Pavlakis

    更新日期:2020-01-13
  • Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-01-13
    Julia L Keith,Emily Swinkin,Andrew Gao,Samira Alminawi,Ming Zhang,Philip McGoldrick,Paul McKeever,Janice Robertson,Ekaterina Rogaeva,Lorne Zinman

    Objective To present the postmortem neuropathologic report of a patient with a CHCHD10 mutation exhibiting an amyotrophic lateral sclerosis (ALS) clinical phenotype. Methods A 54-year-old man without significant medical history or family history presented with arm weakness, slowly progressed over 19 years to meet the El Escorial criteria for clinically probable ALS with bulbar and respiratory involvement

    更新日期:2020-01-13
  • Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
    Neurol. Genet. (IF 3.509) Pub Date : 2020-01-13
    Claudia Stendel,Christiane Neuhofer,Elisa Floride,Shi Yuqing,Rebecca D Ganetzky,Joohyun Park,Peter Freisinger,Cornelia Kornblum,Stephanie Kleinle,Ludger Schöls,Felix Distelmaier,Georg M Stettner,Boriana Büchner,Marni J Falk,Johannes A Mayr,Matthis Synofzik,Angela Abicht,Tobias B Haack,Holger Prokisch,Saskia B Wortmann,Kei Murayama,Fang Fang,Thomas Klopstock,

    Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. Methods We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China. Results We identified 113 clinically affected and 19 asymptomatic individuals

    更新日期:2020-01-13
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