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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27191240/what-s-in-a-name-problems-facts-and-controversies-regarding-neurological-eponyms
#13
Hélio A G Teive, Plínio M G Lima, Francisco M B Germiniani, Renato P Munhoz
The use of eponyms in neurology remains controversial, and important questions have been raised about their appropriateness. Different approaches have been taken, with some eponyms being excluded, others replaced, and new ones being created. An example is Hallervorden-Spatz syndrome, which has been replaced by neurodegeneration with brain iron accuulatium (NBIA). Amiothoplic lateral sclerosys (ALS), for which the eponym is Charcot's disease, has been replaced in the USA by Lou Gehrig's disease. Guillain-Barré syndrome (GBS) is an eponym that is still the subject of controversy, and various different names are associated with it...
May 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27141409/mitochondrial-dysfunction-and-defects-in-lipid-homeostasis-as-therapeutic-targets-in-neurodegeneration-with-brain-iron-accumulation
#14
Kerri J Kinghorn, Jorge Iván Castillo-Quan
The PLA2G6 gene encodes a group VIA calcium independent phospholipase A2 (iPLA2β), which hydrolyses glycerophospholipids to release fatty acids and lysophospholipids. Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including neurodegeneration with brain iron accumulation (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia parkinsonism, collectively known as PLA2G6-associated neurodegeneration (PLAN). Recently Kinghorn et al. demonstrated in Drosophila and PLA2G6 mutant fibroblasts that loss of normal PLA2G6 activity is associated with mitochondrial dysfunction and mitochondrial lipid peroxidation...
2016: Rare Diseases
https://www.readbyqxmd.com/read/26859818/beta-propellar-protein-associated-neurodegeneration-a-rare-cause-of-infantile-autistic-regression-and-intracranial-calcification
#15
Sangeetha Yoganathan, Gautham Arunachal, Sniya Valsa Sudhakar, Venkateswaran Rajaraman, Maya Thomas, Sumita Danda
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein...
April 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26848170/differences-in-globus-pallidus-neuronal-firing-rates-and-patterns-relate-to-different-disease-biology-in-children-with-dystonia
#16
V M McClelland, A Valentin, H G Rey, D E Lumsden, M C Elze, R Selway, G Alarcon, J-P Lin
BACKGROUND: The pathophysiology underlying different types of dystonia is not yet understood. We report microelectrode data from the globus pallidus interna (GPi) and globus pallidus externa (GPe) in children undergoing deep brain stimulation (DBS) for dystonia and investigate whether GPi and GPe firing rates differ between dystonia types. METHODS: Single pass microelectrode data were obtained to guide electrode position in 44 children (3.3-18.1 years, median 10...
September 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/26828213/clinical-heterogeneity-of-atypical-pantothenate-kinase-associated-neurodegeneration-in-koreans
#17
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H Sohn, Beom Seok Jeon, Myung Sik Lee
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature...
January 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/26790960/wdr45-mutations-in-rett-like-syndrome-and-developmental-delay-case-report-and-an-appraisal-of-the-literature
#18
REVIEW
Sabine Hoffjan, Aysegül Ibisler, Anne Tschentscher, Gabriele Dekomien, Carla Bidinost, Alberto L Rosa
Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood. Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. We identified a novel splice site mutation (c.440-2 A > G) in a 5-year-old Argentinian patient with Rett-like syndrome, exhibiting developmental delay, microcephaly, seizures and stereotypic hand movements, and discuss this finding, together with a review of the literature...
February 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/26739693/neurodegeneration-with-brain-iron-accumulation
#19
REVIEW
Susanne A Schneider
Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of neurodegenerative disorders characterized by abnormalities in brain iron metabolism with excess iron accumulation in the globus pallidus and to a lesser degree in the substantia nigra and sometimes adjacent areas. They clinically present as neurodegenerative diseases with progressive hypo- and/or hyperkinetic movement disorders and a variable degree of pyramidal, cerebellar, peripheral nerve, autonomic, cognitive and psychiatric involvement, and visual dysfunction...
January 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/26728570/brain-iron-accumulation-affects-myelin-related-molecular-systems-implicated-in-a-rare-neurogenetic-disease-family-with-neuropsychiatric-features
#20
M Heidari, D M Johnstone, B Bassett, R M Graham, A C G Chua, M J House, J F Collingwood, C Bettencourt, H Houlden, M Ryten, J K Olynyk, D Trinder, E A Milward
The 'neurodegeneration with brain iron accumulation' (NBIA) disease family entails movement or cognitive impairment, often with psychiatric features. To understand how iron loading affects the brain, we studied mice with disruption of two iron regulatory genes, hemochromatosis (Hfe) and transferrin receptor 2 (Tfr2). Inductively coupled plasma atomic emission spectroscopy demonstrated increased iron in the Hfe(-/-) × Tfr2(mut) brain (P=0.002, n ≥5/group), primarily localized by Perls' staining to myelinated structures...
November 2016: Molecular Psychiatry
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