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https://www.readbyqxmd.com/read/28878728/patient-affected-by-beta-propeller-protein-associated-neurodegeneration-a-therapeutic-attempt-with-iron-chelation-therapy
#1
Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L Forni, Enrico Granieri
Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#2
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28818478/mutations-in-ddhd1-encoding-a-phospholipase-a1-is-a-novel-cause-of-retinopathy-and-neurodegeneration-with-brain-iron-accumulation
#3
Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk, Fanny Mochel
Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is involved in the remodelling of phospholipids. We previously described a relatively pure hereditary spastic paraplegia (HSP) phenotype associated with mutations in DDHD1. Here we report a complex form of HSP associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation (NBIA) on brain MRI, due to a novel homozygous mutation in DDHD1...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28664294/rare-causes-of-early-onset-dystonia-parkinsonism-with-cognitive-impairment-a-de-novo-psen-1-mutation
#4
Miryam Carecchio, Marina Picillo, Lorella Valletta, Antonio E Elia, Tobias B Haack, Autilia Cozzolino, Annalisa Vitale, Barbara Garavaglia, Arcangela Iuso, Caterina F Bagella, Sabina Pappatà, Paolo Barone, Holger Prokisch, Luigi Romito, Valeria Tiranti
Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy...
July 2017: Neurogenetics
https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#5
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28641177/a-30-year-history-of-mpan-case-from-russia
#6
M Selikhova, E Fedotova, S Wiethoff, L V Schottlaender, S Klyushnikov, S N Illarioshkin, H Houlden
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
June 2, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#7
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#8
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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