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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations Neurogenetics (IF 2.774) Pub Date : 2021-01-23 Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clinical characteristics from two European university hospitals
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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series Neurogenetics (IF 2.774) Pub Date : 2021-01-20 Luca Magistrelli, Roberta Croce, Fabiola De Marchi, Chiara Basagni, Miryam Carecchio, Nicola Nasuelli, Roberto Cantello, Federica Invernizzi, Barbara Garavaglia, Cristoforo Comi, Letizia Mazzini, Sandra D’Alfonso, Lucia Corrado
Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly
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Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR Neurogenetics (IF 2.774) Pub Date : 2021-01-07 Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutations of survival motor neuron 1 (SMN1) but retention of one or more copies of the paralog SMN2. Within the SMA population, there is substantial variation
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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant Neurogenetics (IF 2.774) Pub Date : 2021-01-07 Idriss Bousquet, Muriel Bozon, Valérie Castellani, Renaud Touraine, Amélie Piton, Bénédicte Gérard, Laurent Guibaud, Damien Sanlaville, Patrick Edery, Pascale Saugier-Veber, Audrey Putoux
Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), and a form of spastic paraplegia (SPG1). A moderate phenotype with mild intellectual disability (ID) and X-linked partial corpus
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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy Neurogenetics (IF 2.774) Pub Date : 2021-01-06 Xavière Lornage, Martial Mallaret, Roberto Silva-Rojas, Valérie Biancalana, Diane Giovannini, Klaus Dieterich, Safaa Saker, Jean-François Deleuze, Bernard Wuyam, Jocelyn Laporte, Johann Böhm
The nuclear envelope (NE) separates the nucleus from the cytoplasm in all eukaryotic cells. A disruption of the NE structure compromises normal gene regulation and leads to severe human disorders collectively classified as nuclear envelopathies and affecting skeletal muscle, heart, brain, skin, and bones. The ubiquitous NE component LAP1B is encoded by TOR1AIP1, and the use of an alternative start
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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review Neurogenetics (IF 2.774) Pub Date : 2021-01-04 Gauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, Laurence Desmyter
C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance. Clinical examination of the boy mainly showed distal amyotrophy and mild weakness, while the sister predominantly had a tetrapyramidal syndrome. Widespread chronic neurogenic signs and hypointense signals on the
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De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. Neurogenetics (IF 2.774) Pub Date : 2020-09-17 Marcello Scala,Evelien Zonneveld-Huijssoon,Marianna Brienza,Oriano Mecarelli,Annemarie H van der Hout,Elena Zambrelli,Katherine Turner,Federico Zara,Angela Peron,Aglaia Vignoli,Pasquale Striano
Individuals harboring pathogenic variants in ARHGEF9, encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)–ergic synapses named collybistin, show intellectual disability (ID), facial dysmorphism, behavioral disorders, and epilepsy. Only few affected females carrying large chromosomal rearrangements involving ARHGEF9 have been reported so far. Through next-generation sequencing
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Cerebellar dysplasia related to PIK3CA mutation: a three-case series. Neurogenetics (IF 2.774) Pub Date : 2020-09-08 Martina Di Stasi,Giana Izzo,Elisa Cattaneo,Vittoria Baraldini,Chiara Doneda,Andrea Righini,Daniela Graziani,Valentina Toto,Cecilia Parazzini
The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases with PIK3CA mutation and clinical characteristics encompassing MCAP (megalencephaly-capillary malformation) condition but lacking all criteria to a certain
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Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency. Neurogenetics (IF 2.774) Pub Date : 2020-08-24 Matthias Amprosi,Michael Zech,Ruth Steiger,Wolfgang Nachbauer,Andreas Eigentler,Elke R Gizewski,Michael Guger,Elisabetta Indelicato,Sylvia Boesch
The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene (ADCK3). Due to the potential response to CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual
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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding. Neurogenetics (IF 2.774) Pub Date : 2020-08-20 Ilenia Maini,Edoardo Errichiello,Stefano Giuseppe Caraffi,Simonetta Rosato,Veronica Bizzarri,Marzia Pollazzon,Gabriele Trimarchi,Gianluca Contrò,Benedetta Cavirani,Chiara Gelmini,Manuela Napoli,Claudio Moratti,Rosario Pascarella,Susanna Rizzi,Carlo Fusco,Orsetta Zuffardi,Livia Garavelli
Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene. It is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. Since 2015, through whole exome sequencing, 20 patients have been described with common clinical features and biallelic variants in MED25
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Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Neurogenetics (IF 2.774) Pub Date : 2020-08-19 Hiroya Naruse,Hiroyuki Ishiura,Jun Mitsui,Yuji Takahashi,Takashi Matsukawa,Kaori Sakuishi,Kiyotaka Nakamagoe,Zenshi Miyake,Akira Tamaoka,Jun Goto,Jun Yoshimura,Koichiro Doi,Shinichi Morishita,Tatsushi Toda,Shoji Tsuji
Our objective was to investigate the frequency of KIF5A variants in amyotrophic lateral sclerosis (ALS) and the clinical characteristics of familial ALS (FALS) associated with variants in KIF5A. Whole-exome sequence analysis was performed for a Japanese series of 43 families with FALS and 444 patients with sporadic ALS (SALS), in whom causative variants had not been identified. We compared the frequencies
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Distal myopathy due to TCAP variants in four unrelated Chinese patients. Neurogenetics (IF 2.774) Pub Date : 2020-08-06 Xiaoqing Lv,Fei Gao,Tingjun Dai,Dandan Zhao,Wei Jiang,Hongzhi Geng,Fuchen Liu,Pengfei Lin,Chuanzhu Yan
Distal myopathies are a group of clinically and genetically heterogeneous hereditary muscle disorders characterized by progressive muscular weakness starting in the distal parts of the limbs. The most common subtype of distal myopathy is GNE myopathy, a rare muscle disease with autosomal recessive inheritance. Limb-girdle muscular dystrophy 2G (LGMD2G) is a rare autosomal recessive subtype of LGMDs
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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia. Neurogenetics (IF 2.774) Pub Date : 2020-07-07 Massimo Santoro,Alessia Perna,Piergiorgio La Rosa,Sara Petrillo,Fiorella Piemonte,Salvatore Rossi,Vittorio Riso,Tommaso Filippo Nicoletti,Anna Modoni,Maria Grazia Pomponi,Pietro Chiurazzi,Gabriella Silvestri
Friedreich’s ataxia (FRDA) is usually due to a homozygous GAA expansion in intron 1 of the frataxin (FXN) gene. Rarely, uncommon molecular rearrangements at the FXN locus can cause pitfalls in the molecular diagnosis of FRDA. Here we describe a family whose proband was affected by late-onset Friedreich’s ataxia (LOFA); long-range PCR (LR-PCR) documented two small expanded GAA alleles both in the proband
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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Neurogenetics (IF 2.774) Pub Date : 2020-07-07 Shanice Beerepoot,Silvy J M van Dooren,Gajja S Salomons,Jaap Jan Boelens,Edwin H Jacobs,Marjo S van der Knaap,André B P van Kuilenburg,Nicole I Wolf
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA). Genetic analysis of the ARSA gene is important in MLD diagnosis and screening of family members. In addition, more information on genotype prevalence will help interpreting MLD population differences between countries. In this
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Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy. Neurogenetics (IF 2.774) Pub Date : 2020-06-20 Marketa Wayhelova,Michal Ryzí,Jan Oppelt,Eva Hladilkova,Vladimira Vallova,Lenka Krskova,Marcela Vilemova,Hana Polackova,Renata Gaillyova,Petr Kuglik
Pathogenic sequence variants in the IQ motif– and Sec7 domain–containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report on a case of a family with three sons; two of them manifest delayed psychomotor development and epilepsy. Initially proband A was examined using a multistep
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Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations. Neurogenetics (IF 2.774) Pub Date : 2020-06-05 Matthew Tanti,Diane Cairns,Nasir Mirza,Emma McCann,Carolyn Young
Pathogenic variants in the nonimprinted in Prader-Willi/Angelman syndrome (NIPA1) gene typically present with pure hereditary spastic paraplegia (HSP) but complex cases are described. We present a patient with childhood idiopathic generalised epilepsy (IGE) who later developed HSP. She rapidly deteriorated 27 years later with clinically definite amyotrophic lateral sclerosis (ALS). Her family history
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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. Neurogenetics (IF 2.774) Pub Date : 2020-06-03 Daniel Halperin,Aviad Sapir,Ohad Wormser,Max Drabkin,Yuval Yogev,Vadim Dolgin,Hagit Flusser,Ohad S Birk
Mutations in myotubularin-related protein 2 (MTMR2) were shown to underlie Charcot-Marie-Tooth type 4B1 (CMT4B1) disease, a rare autosomal recessive demyelinating neuropathy, characterized by severe early-onset motor and sensory neuropathy. We describe three siblings of consanguineous kindred presenting with hypotonia, reduced muscle tone, action tremor, dysmetria, areflexia, and skeletal deformities
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A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. Neurogenetics (IF 2.774) Pub Date : 2020-05-27 Reeval Segel,Adi Aran,Suleyman Gulsuner,Hiroki Nakamura,Tzvia Rosen,Tom Walsh,Hiroto Denda,Sharon Zeligson,Katsuki Eto,Rachel Beeri,Haruka Okai,Mary-Claire King,Ephrat Levy-Lahad,Kouichi Funato,Paul Renbaum
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is involved in a number of biochemical processes including the synthesis of sphingolipids and glycosylphosphatidylinositol (GPI), a glycolipid anchor that
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Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect. Neurogenetics (IF 2.774) Pub Date : 2020-05-26 Marta Melis,Andrea Molari,Gianluca Floris,Sarah Vascellari,Luisa Balestrino,Anna Ladogana,Anna Poleggi,Piero Parchi,Giovanni Cossu,Maurizio Melis,Sandro Orrù,Giovanni Defazio
In genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of cases. The R208H is one of the several additional rare mutations and to date, only 16 cases carrying this mutation have been reported worldwide. To describe the phenotypic features of 5 affected patients belonging to apparently unrelated Sardinian (Italian) families with
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Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival. Neurogenetics (IF 2.774) Pub Date : 2020-05-18 Tamar Gur Hartman,Keren Yosovich,Hila Gur Michaeli,Lubov Blumkin,Liat Ben-Sira,Dorit Lev,Tally Lerman-Sagie,Ayelet Zerem
Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old
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Rare copy number variations of planar cell polarity genes are associated with human neural tube defects. Neurogenetics (IF 2.774) Pub Date : 2020-05-09 Tian Tian,Yunping Lei,Yongyan Chen,Yinnan Guo,Lei Jin,Richard H Finnell,Linlin Wang,Aiguo Ren
Select single-nucleotide variants in planar cell polarity (PCP) genes are associated with increased risk for neural tube defects (NTDs). However, whether copy number variants (CNVs) in PCP genes contribute to NTDs is unknown. Considering that CNVs are implicated in several human developmental disorders, we hypothesized that CNVs in PCP genes may be causative factors to human NTDs. DNA from umbilical
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Oligogenicity, C9orf72 expansion, and variant severity in ALS. Neurogenetics (IF 2.774) Pub Date : 2020-05-08 Jay P Ross,Claire S Leblond,Sandra B Laurent,Dan Spiegelman,Alexandre Dionne-Laporte,William Camu,Nicolas Dupré,Patrick A Dion,Guy A Rouleau
“Oligogenic inheritance” is used to describe cases where more than one rare pathogenic variant is observed in the same individual. While multiple variants can alter disease presentation, the necessity of multiple variants to instigate pathogenesis has not been addressed in amyotrophic lateral sclerosis (ALS). We sequenced ALS-associated genes in C9orf72-expansion-positive and negative ALS patients
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Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain. Neurogenetics (IF 2.774) Pub Date : 2020-05-06 Roel R I van Reij,Jan Willem Voncken,Elbert A J Joosten,Nynke J van den Hoogen
Chronic postsurgical pain (CPSP) is a debilitating chronic pain condition that has a substantial effect on quality of life. CPSP shows considerable clinical overlap with different chronic peripheral pain syndromes, suggesting a shared aetiology. This study aims to assess the genetic overlap between different chronic pain syndromes and CPSP, providing relevant biological context for potential chronic
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Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease. Neurogenetics (IF 2.774) Pub Date : 2020-04-28 Jana Key,Antonia Maletzko,Aneesha Kohli,Suzana Gispert,Sylvia Torres-Odio,Ilka Wittig,Juliana Heidler,Clea Bárcena,Carlos López-Otín,Yuanjiu Lei,A Phillip West,Christian Münch,Georg Auburger
Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory angiogenesis. Mysterin mutations, together with exposure to environmental trigger factors, lead to an elevated stroke risk since childhood. Mysterin is induced during cell stress, to function as cytosolic AAA+ ATPase and ubiquitylation
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Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder. Neurogenetics (IF 2.774) Pub Date : 2020-04-18 Pınar Gelener,Mariasavina Severino,Sevda Diker,Kerem Teralı,Gulten Tuncel,Hatice Tuzlalı,Elena Manara,Stefano Paolacci,Matteo Bertelli,Mahmut Cerkez Ergoren
Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of l-lysine, l-hydroxylysine, and l-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several
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Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1. Neurogenetics (IF 2.774) Pub Date : 2020-03-28 Jianda Wang,Yanqi Hou,Lina Qi,Shuang Zhai,Liangwu Zheng,Lin Han,Yufan Guo,Bijun Zhang,Pu Miao,Yuting Lou,Xiaoxiao Xu,Ye Wang,Yanqi Ren,Zhenhua Cao,Jianhua Feng
Hereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was recently found to induce a rare type of HSP (SPG80). We identified a family with eight inherited spastic paraplegic patients carrying a novel heterozygous mutation c.279delG (p.S94Vfs*9) of UBAP1. We demonstrated a lack of functional UBAP1 in these patients
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Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients. Neurogenetics (IF 2.774) Pub Date : 2020-03-26 Azza Abdel Gawad Tantawy,Amira Abdel Moneam Adly,Mai Seif El Din Abdeen,Nouran Yousef Salah
Evidence about the link between glucocerebrosidase (GCase) and parkinsonism is growing. Parkinsonism was described in adult type 1 Gaucher disease (GD); few case reports described it in type 3GD. To assess the presence of parkinsonian features in a cohort of Egyptian GD patients and correlate these findings to their genotype, phenotype, severity scoring index (SSI), cognitive function, and the presence
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Familial analysis reveals rare risk variants for migraine in regulatory regions. Neurogenetics (IF 2.774) Pub Date : 2020-02-19 Tanya Ramdal Techlo,Andreas Høiberg Rasmussen,Peter L Møller,Morten Bøttcher,Simon Winther,Olafur B Davidsson,Isa A Olofsson,Mona Ameri Chalmer,Lisette J A Kogelman,Mette Nyegaard,Jes Olesen,Thomas Folkmann Hansen
The most recent genome-wide association study of migraine increased the total number of known migraine risk loci to 38. Still, most of the heritability of migraine remains unexplained, and it has been suggested that rare gene dysregulatory variants play an important role in migraine etiology. Addressing the missing heritability of migraine, we aim to fine-map signals from the known migraine risk loci
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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. Neurogenetics (IF 2.774) Pub Date : 2020-02-15 Matias Morin,Anna-Lena Forst,Paula Pérez-Torre,Adriano Jiménez-Escrig,Verónica Barca-Tierno,Eva García-Galloway,Richard Warth,Jose Luis Lopez-Sendón Moreno,Miguel Angel Moreno-Pelayo
KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Patients with EAST/SeSAME syndrome display renal salt wasting and electrolyte imbalance that resemble
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Reply to letter to the editor by De Michele et al. Neurogenetics (IF 2.774) Pub Date : 2020-02-06 A Nazli Basak
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Of cognition and cerebellum in SCA48. Neurogenetics (IF 2.774) Pub Date : 2020-02-03 Giovanna De Michele,Elena Salvatore,Sirio Cocozza,Alessandro Filla,Filippo M Santorelli
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POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics (IF 2.774) Pub Date : 2020-01-15 Inga Harting,Murtadha Al-Saady,Ingeborg Krägeloh-Mann,Annette Bley,Maja Hempel,Tatjana Bierhals,Stephanie Karch,Ute Moog,Geneviève Bernard,Richard Huntsman,Rosalina M L van Spaendonk,Maaike Vreeburg,Agustí Rodríguez-Palmero,Aurora Pujol,Marjo S van der Knaap,Petra J W Pouwels,Nicole I Wolf
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum)
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Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease. Neurogenetics (IF 2.774) Pub Date : 2020-01-11 Katarzyna Hetmańczyk-Sawicka,Roksana Iwanicka-Nowicka,Anna Fogtman,Jarosław Cieśla,Paweł Włodarski,Barbara Żyżyńska-Granica,Mirella Filocamo,Andrea Dardis,Paolo Peruzzo,Małgorzata Bednarska-Makaruk,Marta Koblowska,Agnieszka Ługowska
Changes in gene expression profiles were investigated in 23 patients with Niemann–Pick C1 disease (NPC). cDNA expression microarrays with subsequent validation by qRT-PCR were used. Comparison of NPC to control samples revealed upregulation of genes involved in inflammation (MMP3, THBS4), cytokine signalling (MMP3), extracellular matrix degradation (MMP3, CTSK), autophagy and apoptosis (CTSK, GPNMB
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Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams. Neurogenetics (IF 2.774) Pub Date : 2020-01-10 Peiwei Zhao,Xuehua Peng,Sukun Luo,Yufeng Huang,Li Tan,Jianbo Shao,Xuelian He
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of disorders caused by the defects in the synthesis and processing of glycoproteins. CDG is caused by mannosyl-oligosaccharide glucosidase (MOGS) deficiency, and is an extremely rare type, and only six patients have been reported. Here, we report a patient from China with facial dysmorphism, infantile spams, developmental
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Mitochondrial epilepsy: a cross-sectional nationwide Italian survey. Neurogenetics (IF 2.774) Pub Date : 2020-01-03 Chiara Ticci,Federico Sicca,Anna Ardissone,Enrico Bertini,Valerio Carelli,Daria Diodato,Lidia Di Vito,Massimiliano Filosto,Chiara La Morgia,Costanza Lamperti,Diego Martinelli,Isabella Moroni,Olimpia Musumeci,Daniele Orsucci,Elia Pancheri,Lorenzo Peverelli,Guido Primiano,Anna Rubegni,Serenella Servidei,Gabriele Siciliano,Costanza Simoncini,Paola Tonin,Antonio Toscano,Michelangelo Mancuso,Filippo M Santorelli
Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative Network of Mitochondrial Diseases” (NICNMD) database (1467 patients included since 2010 to December 2016). We collected information on age at epilepsy onset, seizure type and frequency, genetic
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Customized multigene panels in epilepsy: the best things come in small packages. Neurogenetics (IF 2.774) Pub Date : 2019-12-13 Simona Pellacani,Claudia Dosi,Giulia Valvo,Francesca Moro,Serena Mero,Federico Sicca,Filippo Maria Santorelli
Over the past 10 years, the increasingly important role played by next-generation sequencing panels in the genetic diagnosis of epilepsy has led to a growing list of gene variants and a plethora of new scientific data. To date, however, there is still no consensus on what constitutes the “ideal panel design,” or on the most rational criteria for selecting the best candidates for gene-panel analysis
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Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2. Neurogenetics (IF 2.774) Pub Date : 2019-12-12 Shan Lin,Liu-Qing Xu,Guo-Rong Xu,Ling-Ling Guo,Bi-Juan Lin,Wan-Jin Chen,Ning Wang,Yi Lin,Jin He
Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new causative and disease-associated genes have been identified for CMT2 in recent years, molecular diagnoses are still lacking for a majority of patients. We here studied a cohort of 35 CMT2 patients of Chinese descent, using whole exome sequencing to investigate gene mutations and
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Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. Neurogenetics (IF 2.774) Pub Date : 2019-12-10 Thomas Smol,Caroline Thuillier,Elise Boudry-Labis,Anne Dieux-Coeslier,Bénédicte Duban-Bedu,Roseline Caumes,Sonia Bouquillon,Sylvie Manouvrier-Hanu,Catherine Roche-Lestienne,Jamal Ghoumid
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting
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Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey. Neurogenetics (IF 2.774) Pub Date : 2019-11-19 Hatice Mutlu-Albayrak,Emre Kırat,Gürkan Gürbüz
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar tract, and/or the sensory tracts of the spinal cord. This study is aimed at establishing molecular classification and phenotypic correlation of childhood-onset ARAs in Southeast Anatolia of Turkey. Sixty-five children (aged 0 to 18) from 40 unrelated
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Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics (IF 2.774) Pub Date : 2019-11-19 R Palvadeau,Z E Kaya-Güleç,G Şimşir,A Vural,Ö Öztop-Çakmak,G Genç,M S Aygün,O Falay,A Nazlı Başak,S Ertan
SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female
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A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family. Neurogenetics (IF 2.774) Pub Date : 2019-11-13 Liyan Huang,Wei Li,Yi Li,Chaoyuan Song,Pin Wang,Hongchun Wang,Xiulian Sun
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disease leading to stroke and vascular dementia. CADASIL is an inherited small blood vessel disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH3). NOTCH3 is large type I membrane receptor mainly expressed in vascular smooth
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Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A. Neurogenetics (IF 2.774) Pub Date : 2019-08-05 Josef Finsterer
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Reply to the "Letter to the Editor" from Dr. J Finsterer and colleagues. Neurogenetics (IF 2.774) Pub Date : 2019-02-23 Yuichiro Hisatomi,Kei Murayama,Akira Ohtake,Yasushi Okazaki
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PTCD3 mutations cause Leigh-like rather than Leigh syndrome. Neurogenetics (IF 2.774) Pub Date : 2019-02-02 Josef Finsterer,Carla A Scorza,Fulvio A Scorza
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Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy. Neurogenetics (IF 2.774) Pub Date : 2019-01-07 Tsutomu Yasuda,Takashi Matsukawa,Jun Mitsui,Shoji Tsuji
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Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. Neurogenetics (IF 2.774) Pub Date : 2018-07-12 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 ".
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Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'. Neurogenetics (IF 2.774) Pub Date : 2018-02-26 Pirjo Isohanni,Christopher J Carroll,Christopher B Jackson,Max Pohjanpelto,Tuula Lönnqvist,Anu Suomalainen
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Phenotypic manifestations of the m.8969G>A variant. Neurogenetics (IF 2.774) Pub Date : 2018-02-26 Josef Finsterer,Sinda Zarrouk-Mahjoub
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Developing the field of neurogenetics. Neurogenetics (IF 2.774) Pub Date : 2017-11-23 Ulrich Müller,Georg Auburger,Manuel B Graeber,Louis J Ptacek
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Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot. Neurogenetics (IF 2.774) Pub Date : 2017-03-16 Margaret K King,Enrico Leipold,Jessica M Goehringer,Ingo Kurth,Thomas D Challman
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Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect. Neurogenetics (IF 2.774) Pub Date : 2017-02-13 Maher Awni Shahrour,Claudia M Nicolae,Simon Edvardson,Motee Ashhab,Adri M Galvan,Daniel Constantin,Bassam Abu-Libdeh,George-Lucian Moldovan,Orly Elpeleg
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. Neurogenetics (IF 2.774) Pub Date : 2016-12-04 Michelangelo Cao,Marta Donà,Maria Lucia Valentino,Claudio Semplicini,Alessandra Maresca,Matteo Cassina,Alessandra Torraco,Eva Galletta,Valeria Manfioli,Gianni Sorarù,Valerio Carelli,Roberto Stramare,Enrico Bertini,Rosalba Carrozzo,Leonardo Salviati,Elena Pegoraro
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Alzheimer's disease risk genes in wild-type adult zebrafish exhibit gender-specific expression changes during aging. Neurogenetics (IF 2.774) Pub Date : 2016-05-29 Jinyoung Lee,Samuel M Peterson,Jennifer L Freeman
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. Neurogenetics (IF 2.774) Pub Date : 2016-03-01 Michelangelo Cao,Marta Donà,M Lucia Valentino,Claudio Semplicini,Alessandra Maresca,Matteo Cassina,Alessandra Torraco,Eva Galletta,Valeria Manfioli,Gianni Sorarù,Valerio Carelli,Roberto Stramare,Enrico Bertini,Rosalba Carozzo,Leonardo Salviati,Elena Pegoraro
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The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics (IF 2.774) Pub Date : 2019-10-31 Ayşe Candayan,Gulshan Yunisova,Arman Çakar,Hacer Durmuş,A Nazlı Başak,Yeşim Parman,Esra Battaloğlu
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from consanguineous parents presenting with a CMT-like phenotype who carry a homozygous c.493C>T, p.Arg165Cys mutation in the FXN gene that is the only known causative gene for Friedreich’s ataxia (FRDA). The identified missense mutation
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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. Neurogenetics (IF 2.774) Pub Date : 2019-10-26 Andoni Echaniz-Laguna,Jean-Marie Cuisset,Lucie Guyant-Marechal,Patrick Aubourg,Laurent Kremer,Naziha Baaloul,Alain Verloes,Kouider Beladgham,Jimmy Perrot,Bruno Francou,Philippe Latour
Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a progressive sensorimotor neuropathy affecting peripheral nervous system (PNS) and central nervous system (CNS). Methods: In this multicenter observational retrospective study, we recorded French patients with GAN mutations, and 10 patients were identified. Mean
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Infectious stress triggers a POLG-related mitochondrial disease. Neurogenetics (IF 2.774) Pub Date : 2019-10-26 Paula Gaudó,Sonia Emperador,Nuria Garrido-Pérez,Eduardo Ruiz-Pesini,Delia Yubero,Angels García-Cazorla,Rafael Artuch,Julio Montoya,María Pilar Bayona-Bafaluy
A 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. After ceftriaxone/lidocaine administration, she showed secondarily generalized focal crises that led to neurological and motor sequelae. Genetic studies identified in the patient two heterozygous POLG mutations (c.2591A>G; p.Asn864Ser and c.3649G>C; p.Ala1217Pro). Through analysis of POLG activity in cultured fibroblasts
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Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease. Neurogenetics (IF 2.774) Pub Date : 2019-09-06 Nicola du Toit,Riaan van Coller,David G Anderson,Jonathan Carr,Soraya Bardien
G2019S in LRRK2 is the most common mutation associated with Parkinson’s disease (PD). Highest frequencies are in North African Arabic (30–41%) and Ashkenazi Jewish (6–30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of