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https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#1
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28487376/visual-and-ocular-motor-function-in-the-atypical-form-of-neurodegeneration-with-brain-iron-accumulation-type-i
#2
Joana Jesus-Ribeiro, Cláudia Farinha, Margarida Amorim, Anabela Matos, Aldina Reis, João Lemos, Miguel Castelo-Branco, Cristina Januário
BACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I. METHODS: Cross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography...
May 9, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28456385/changes-in-red-blood-cell-membrane-lipid-composition-a-new-perspective-into-the-pathogenesis-of-pkan
#3
Manar Aoun, Paola Antonia Corsetto, Guillaume Nugue, Gigliola Montorfano, Emilio Ciusani, David Crouzier, Penelope Hogarth, Allison Gregory, Susan Hayflick, Giovanna Zorzi, Angela Maria Rizzo, Valeria Tiranti
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). The PANK2 catalyzes the first step of coenzyme A (CoA) biosynthesis, a pathway producing an essential cofactor that plays a key role in energy and lipid metabolism. The majority of PANK2 mutations reduces or abolishes the activity of the enzyme. In around 10% of cases with PKAN, the presence of deformed red blood cells with thorny protrusions in the circulation has been detected...
April 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28365006/mutations-in-c19orf12-and-intronic-repeat-expansions-in-c9orf72-not-observed-in-iranian-parkinson-s-disease-patients
#4
Afagh Alavi, Maryam Malakouti Nejad, Gholamali Shahidi, Elahe Elahi
Various neurodegenerative disorders share some clinical features that sometimes renders differential diagnosis challenging. Genetic-based classification also has limitations as mutations in the same gene are sometimes associated with different clinically based diagnoses. In this light, we screened the C19orf12 neurodegeneration with brain iron accumulation (NBIA) causing gene and the C9orf72 intronic expansion mutation that is cause of amyotrophic lateral sclerosis in 186 Iranian Parkinson's disease (PD) patients...
June 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28352978/transcranial-sonography-in-mitochondrial-membrane-protein-associated-neurodegeneration
#5
Marta Skowronska, Tomasz Kmiec, Anna Czlonkowska, Iwona Kurkowska-Jastrzębska
INTRODUCTION: Although the nature of basal ganglia hyperechogenicity in transcranial sonography (TCS) examinations remains unclear, many studies have shown associations between hyperechogenicity and iron accumulation. The role of iron in basal ganglia hyperechogenicity raises interest in the use of TCS in forms of neurodegeneration with brain iron accumulation (NBIA). Here we analyzed TCS and magnetic resonance imaging (MRI) findings among patients affected by one type of NBIA, mitochondrial membrane protein-associated neurodegeneration (MPAN)...
March 28, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28347615/the-p-thr11met-mutation-in-c19orf12-is-frequent-among-adult-turkish-patients-with-mpan
#6
Simone Olgiati, Okan Doğu, Zeynep Tufekcioglu, Yunus Diler, Esen Saka, Murat Gultekin, Hakan Kaleagasi, Demy Kuipers, Josja Graafland, Guido J Breedveld, Marialuisa Quadri, Reyhan Sürmeli, Gülin Sünter, Tuğrul Doğan, Ayşe Destina Yalçın, Başar Bilgiç, Bülent Elibol, Murat Emre, Hasmet A Hanagasi, Vincenzo Bonifati
INTRODUCTION: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands with idiopathic NBIA. We also performed haplotype analysis in families with a recurrent C19orf12 mutation...
March 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28347614/evolution-and-novel-radiological-changes-of-neurodegeneration-associated-with-mutations-in-c19orf12
#7
Marta Skowronska, Tomasz Kmiec, Elzbieta Jurkiewicz, Katarzyna Malczyk, Iwona Kurkowska-Jastrzębska, Anna Czlonkowska
INTRODUCTION: Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. NBIA subtype mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by recently discovered mutations in C19orf12, which encodes a protein localized in the mitochondrial membrane. METHODS: The present and past radiological features of 14 MPAN patients were analyzed. RESULTS: Clinical evaluation did not reveal novel findings: spastic para- and tetraparesis with muscle atrophy are typical for MPAN...
March 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28261264/ferrous-iron-up-regulation-in-fibroblasts-of-patients-with-beta-propeller-protein-associated-neurodegeneration-bpan
#8
Rosaria Ingrassia, Maurizio Memo, Barbara Garavaglia
Mutations in WDR45 gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN). BPAN is a movement disorder with Non Transferrin Bound Iron (NTBI) accumulation in the basal ganglia as common hallmark between NBIA classes (Hayflick et al., 2013). WDR45 has been predicted to have a role in autophagy, while the impairment of iron metabolism in the different NBIA subclasses has not currently been clarified. We found the up-regulation of the ferrous iron transporter (-)IRE/Divalent Metal Transporter1 and down-regulation of Transferrin receptor in the fibroblasts of two BPAN affected patients with splicing mutations 235+1G>A (BPAN1) and 517_519ΔVal 173 (BPAN2)...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28042406/a-novel-deletion-mutation-of-exon-2-of-the-c19orf12-gene-in-an-omani-family-with-mitochondrial-membrane-protein-associated-neurodegeneration-mpan
#9
Nabil Al Macki, Ismail Al Rashdi
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-year-old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia...
January 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/27957548/a-novel-wdr45-mutation-in-a-patient-with-%C3%AE-propeller-protein-associated-neurodegeneration
#10
DonRaphael P Wynn, Stefan M Pulst
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.(1) Brain MRI studies consistently demonstrate iron accumulation in the globus pallidus and substantia nigra with a subset of patients also demonstrating a halo of hyperintense signal surrounding a thin region of hypointense signal in the substantia nigra on T1-weighted imaging...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27942883/mutation-screening-of-pla2g6-in-japanese-patients-with-early-onset-dystonia-parkinsonism
#11
Chikara Yamashita, Manabu Funayama, Yuanzhe Li, Hiroyo Yoshino, Hitoshi Yamada, Yusuke Seino, Hiroyuki Tomiyama, Nobutaka Hattori
A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal dystrophy (INAD) and neurodegeneration associated with brain iron accumulation (NBIA), has recently been shown to be responsible for PARK14-linked dystonia-parkinsonism. To study the frequency of PLA2G6 mutations, including those caused by gene rearrangement in patients with parkinsonism, we performed direct sequencing and investigated copy number variations (CNVs) of this gene in 109 Japanese patients with parkinsonism. Direct sequencing revealed a homozygous mutation (c...
December 9, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27892483/down-regulation-of-coasy-the-gene-associated-with-nbia-vi-reduces-bmp-signaling-perturbs-dorso-ventral-patterning-and-alters-neuronal-development-in-zebrafish
#12
Deepak Khatri, Daniela Zizioli, Natascia Tiso, Nicola Facchinello, Sara Vezzoli, Alessandra Gianoncelli, Maurizio Memo, Eugenio Monti, Giuseppe Borsani, Dario Finazzi
Mutations in Pantothenate kinase 2 and Coenzyme A (CoA) synthase (COASY), genes involved in CoA biosynthesis, are associated with rare neurodegenerative disorders with brain iron accumulation. We showed that zebrafish pank2 gene plays an essential role in brain and vasculature development. Now we extended our study to coasy. The gene has high level of sequence identity with the human ortholog and is ubiquitously expressed from the earliest stages of development. The abrogation of its expression led to strong reduction of CoA content, high lethality and a phenotype resembling to that of dorsalized mutants...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27772766/retinal-and-optic-nerve-abnormalities-in-neurodegeneration-associated-with-mutations-in-c19orf12-mpan
#13
Ewa Langwinska-Wosko, Marta Skowronska, Tomasz Kmiec, Anna Czlonkowska
BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an neurodegeneration with brain iron accumulation (NBIA) subtype with mutation of C19orf12. Optic atrophy is one of the core symptoms in almost all MPAN cases, but the detailed ophthalmologic features of MPAN patients have not yet been described. METHODS: All consecutive symptomatic, gene proven MPAN patients underwent a detailed ophthalmological examination: best corrected visual acuity (BCVA), slit lamp examination, dilated fundus examination, tonometry, optical coherent tomography (OCT) and electrophysiological examinations...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27728536/neurodegeneration-with-brain-iron-accumulation-nbia-formerly-hallervorden-spatz-disease
#14
Leena Mehnaaz
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27671242/mitochondrial-membrane-protein-associated-neurodegeneration-mimicking-juvenile-amyotrophic-lateral%C3%A2-sclerosis
#15
Jiyeon Kim, Yu-Hsien Liao, Cristian Ionita, Allen E Bale, Basil Darras, Gyula Acsadi
BACKGROUND: Mitochondrial membrane protein associated neurodegeneration (MPAN) is the third most common subtype of neurodegeneration with brain iron accumulation (NBIA) and caused by mutations of the orphan gene C19ORF12 encoding a transmembrane mitochondrial protein. Like other NBIA disorders, the hallmark of neuropathology is iron deposition in the basal ganglia, but the clinical presentation is highly variable. METHODS: We present the relevant clinical history, neurological examination, electrophysiological and neuroimaging tests of a currently ten-year-old girl...
November 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27516098/validation-of-the-finding-of-hypertrophy-of-the-clava-in-infantile-neuroaxonal-dystrophy-pla2g6-by-biometric-analysis
#16
A Al-Maawali, G Yoon, A S Feigenbaum, W C Halliday, J T R Clarke, H M Branson, B L Banwell, D Chitayat, Susan I Blaser
INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typically described imaging features of cerebellar atrophy, cerebellar cortex bright FLAIR signal, and globus pallidus iron deposition are variable or late findings...
October 2016: Neuroradiology
https://www.readbyqxmd.com/read/27500074/pathological-relationships-involving-iron-and-myelin-may-constitute-a-shared-mechanism-linking-various-rare-and-common-brain-diseases
#17
Moones Heidari, Sam H Gerami, Brianna Bassett, Ross M Graham, Anita C G Chua, Ritambhara Aryal, Michael J House, Joanna F Collingwood, Conceição Bettencourt, Henry Houlden, Mina Ryten, John K Olynyk, Debbie Trinder, Daniel M Johnstone, Elizabeth A Milward
We previously demonstrated elevated brain iron levels in myelinated structures and associated cells in a hemochromatosis Hfe (-/-) xTfr2 (mut) mouse model. This was accompanied by altered expression of a group of myelin-related genes, including a suite of genes causatively linked to the rare disease family 'neurodegeneration with brain iron accumulation' (NBIA). Expanded data mining and ontological analyses have now identified additional myelin-related transcriptome changes in response to brain iron loading...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27487380/a-diagnostic-approach-for-neurodegeneration-with-brain-iron-accumulation-clinical-features-genetics-and-brain-imaging
#18
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A G Teive, Francisco Cardoso, Orlando G P Barsottini
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome...
July 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27468605/-genetically-determined-diseases-associated-with-pathological-brain-iron-accumulation-and-neurodegeneration
#19
REVIEW
Péter Ács, Mária Judit Molnár, Péter Klivényi, Bernadette Kálmán
The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder's symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived...
March 30, 2016: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/27455807/-iron-accumulation-and-neurodegenerative-diseases
#20
Kunihiro Yoshida
Iron, as well as copper, is essential for a wide variety of biological processes in living organisms, however, dysregulation of iron homeostasis may lead to oxidative stress via redox cycling reactions. Therefore, cellular and systemic iron homeostasis is tightly regulated by a number of iron metabolism proteins. The brain is susceptible to iron-mediated oxidative damage because of a relatively high content of iron and high consumption of oxygen. Iron-mediated neurotoxicity is symbolically seen in neurodegeneration with brain iron accumulation (NBIA) in which iron accumulates mainly in the basal ganglia...
July 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
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