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Neurology. Genetics

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https://www.readbyqxmd.com/read/27878137/mitochondrial-cytopathy-with-common-melas-mutation-presenting-as-multiple-system-atrophy-mimic
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/27830185/fhf1-fgf12-epileptic-encephalopathy
#6
Sameer Al-Mehmadi, Miranda Splitt, Venkateswaran Ramesh, Suzanne DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A Rosenfeld, Patrick Cossette, Jacques L Michaud, Fadi F Hamdan, Philippe M Campeau, Berge A Minassian
Voltage-gated sodium channels (Navs) are mainstays of neuronal function, and mutations in the genes encoding CNS Navs (Nav1.1 [SCN1A], Nav1.2 [SCN2A], Nav1.3 [SCN3A], and Nav1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).(1) Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with the C-terminal tails of Navs to modulate the channels' fast, and long-term, inactivations.(2)FHF2 mutation is a rare cause of generalized epilepsy with febrile seizures plus (GEFS+)...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27830184/novel-hspb1-mutation-causes-both-motor-neuronopathy-and-distal-myopathy
#7
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27822510/sorl1-mutations-in-early-and-late-onset-alzheimer-disease
#8
Michael L Cuccaro, Regina M Carney, Yalun Zhang, Christopher Bohm, Brian W Kunkle, Badri N Vardarajan, Patrice L Whitehead, Holly N Cukier, Richard Mayeux, Peter St George-Hyslop, Margaret A Pericak-Vance
OBJECTIVE: To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS: We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on clinical reviews of medical records. Functional studies were completed to evaluate β-amyloid (Aβ) production and amyloid precursor protein (APP) trafficking associated with SORL1 mutations...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27822509/peripheral-neuropathy-in-patients-with-cpeo-associated-with-single-and-multiple-mtdna-deletions
#9
Diana Lehmann, Malte E Kornhuber, Carolina Clajus, Charlotte L Alston, Andreas Wienke, Marcus Deschauer, Robert W Taylor, Stephan Zierz
OBJECTIVE: To characterize peripheral nerve involvement in patients with chronic progressive external ophthalmoplegia (CPEO) with single and multiple mitochondrial DNA (mtDNA) deletions, based on clinical scores and detailed nerve conduction studies. METHODS: Peripheral nerve involvement was prospectively investigated in 33 participants with CPEO (single deletions n = 18 and multiple deletions n = 15). Clinically, a modified Total Neuropathy Score (mTNS) and a modified International Cooperative Ataxia Rating Scale (mICARS) were used...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27790638/heterozygous-mutations-in-hsd17b4-cause-juvenile-peroxisomal-d-bifunctional-protein-deficiency
#10
David J Amor, Ashley P L Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart
OBJECTIVE: To determine the genetic cause of slowly progressive cerebellar ataxia, sensorineural deafness, and hypergonadotropic hypogonadism in 5 patients from 3 different families. METHODS: The patients comprised 2 sib pairs and 1 sporadic patient. Clinical assessment included history, physical examination, and brain MRI. Linkage analysis was performed separately on the 2 sets of sib pairs using single nucleotide polymorphism microarrays, followed by analysis of the intersection of the regions...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27766311/muscle-involvement-in-limb-girdle-muscular-dystrophy-with-gmppb-deficiency-lgmd2t
#11
S T Oestergaard, T Stojkovic, J R Dahlqvist, C Bouchet-Seraphin, J Nectoux, F Leturcq, M Cossée, G Solé, C Thomsen, T O Krag, J Vissing
OBJECTIVE: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type 2T. METHODS: Six new patients with genetically verified mutations in GMPPB were studied. T1-weighted magnetic resonance images were obtained in 4 participants. Muscle strength and potential involvement of extramuscular organs were examined. Glycosylation of α-dystroglycan in muscle was studied, and GMPPB and α-dystroglycan expression was analyzed by Western blotting...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27766310/epidermolysis-bullosa-simplex-with-muscular-dystrophy-associated-with-plec-deletion-mutation
#12
Valeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, Bjarne Udd, Claudio Gabriel Mazia
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27790637/helix-october-2016-issue
#13
EDITORIAL
Stefan M Pulst
This issue contains a wide variety of articles covering new genes and mutations, unusual phenotypes, and a reminder that novel genetic technologies need to be paired with the appropriate mechanisms to inform patients of new results or annotations of DNA variants.
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27781213/erratum-complicated-spastic-paraplegia-in-patients-with-ap5z1-mutations-spg48
#14
(no author information available yet)
[This corrects the article on p. e98 in vol. 2, PMID: 27606357.].
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27761523/reassessing-carrier-status-for-dystrophinopathies
#15
Tara M Newcomb, Kevin M Flanigan
The cloning of the DMD gene, and the identifications of mutations in it as the cause of Duchenne muscular dystrophy (DMD), makes a compelling story that is aptly told elsewhere.(1) The locus-the largest in the human genome-consists of 79 exons, distributed over 2.5 million nucleotides on the X chromosome, which are assembled into a complementary DNA (cDNA) of around 14 kb encoding the predominant muscle isoform of the dystrophin protein.(2) The size of the gene, and the number of exons, had historically made mutation analysis challenging...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27761522/outdated-risk-assessment-in-a-family-with-duchenne-dystrophy-implications-for-duty-to-reassess
#16
Lauren Bogue, Sindhu Ramchandren
Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 2003(1); women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for DMD newly identified 10 obligate carriers and 28 women at risk to be carriers for DMD.
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27668284/novel-gnb1-missense-mutation-in-a-patient-with-generalized-dystonia-hypotonia-and-intellectual-disability
#17
Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau
Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27668283/mutated-ctsf-in-adult-onset-neuronal-ceroid-lipofuscinosis-and-ftd
#18
Julie van der Zee, Peter Mariën, Roeland Crols, Sara Van Mossevelde, Lubina Dillen, Federica Perrone, Sebastiaan Engelborghs, Jo Verhoeven, Tine D'aes, Chantal Ceuterick-De Groote, Anne Sieben, Jan Versijpt, Patrick Cras, Jean-Jacques Martin, Christine Van Broeckhoven
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing. RESULTS: We identified a homozygous mutation (p...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27660820/novel-tk2-mutations-as-a-cause-of-delayed-muscle-maturation-in-mtdna-depletion-syndrome
#19
Thanes Termglinchan, Seito Hisamatsu, Junko Ohmori, Hiroshi Suzumura, Noriko Sumitomo, George Imataka, Osamu Arisaka, Nobuyuki Murakami, Narihiro Minami, Ishiyama Akihiko, Masayuki Sasaki, Yuichi Goto, Satoru Noguchi, Ikuya Nonaka, Satomi Mitsuhashi, Ichizo Nishino
Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27652346/mendelian-randomization-shows-a-causal-effect-of-low-vitamin-d-on-multiple-sclerosis-risk
#20
Brooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, Amanda Mok, Xiaorong Shao, Hong Quach, Ling Shen, Catherine Schaefer, Jenny Link, Alexandra Gyllenberg, Anna Karin Hedström, Tomas Olsson, Jan Hillert, Ingrid Kockum, M Maria Glymour, Lars Alfredsson, Lisa F Barcellos
OBJECTIVE: We sought to estimate the causal effect of low serum 25(OH)D on multiple sclerosis (MS) susceptibility that is not confounded by environmental or lifestyle factors or subject to reverse causality. METHODS: We conducted mendelian randomization (MR) analyses using an instrumental variable (IV) comprising 3 single nucleotide polymorphisms found to be associated with serum 25(OH)D levels at genome-wide significance. We analyzed the effect of the IV on MS risk and both age at onset and disease severity in 2 separate populations using logistic regression models that controlled for sex, year of birth, smoking, education, genetic ancestry, body mass index at age 18-20 years or in 20s, a weighted genetic risk score for 110 known MS-associated variants, and the presence of one or more HLA-DRB1*15:01 alleles...
October 2016: Neurology. Genetics
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