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https://www.readbyqxmd.com/read/29767814/inborn-errors-of-coenzyme-a-metabolism-and-neurodegeneration
#1
Ivano Di Meo, Miryam Carecchio, Valeria Tiranti
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway...
May 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29765892/botulinum-toxin-a-injection-in-the-treatment-of-spasticity-in-a-infantile-onset-neurodegeneration-with-brain-iron-accumulation-a-case-report
#2
Hwan Kwon Do, Geun Yeol Jo, Jun Koo Kwon, Woo Jin Kim
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29754768/mutations-in-ppcs-encoding-phosphopantothenoylcystein-synthetase-cause-autosomal-recessive-dilated-cardiomyopathy
#3
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A Grzeschik, Jürgen G Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M Strom, Thomas Meitinger, Georg F Hoffmann, Holger Prokisch, Tobias B Haack, Bianca J J M Brundel, Dorothea Haas, Ody C M Sibon, Yair Anikster
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcystein synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcystein. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29681108/functional-mrna-analysis-reveals-aberrant-splicing-caused-by-novel-intronic-mutation-in-wdr45-in-nbia-patient
#4
Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, Meena Balasubramanian
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29473051/ap4-deficiency-a-novel-form-of-neurodegeneration-with-brain-iron-accumulation
#5
Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P Hamel, Guy Lenaers
Objective: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. Methods: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid-attenuated inversion recovery, susceptibility weighted imaging (SWI) sequences...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29409688/classification-and-molecular-pathogenesis-of-nbia-syndromes
#6
REVIEW
Ivano Di Meo, Valeria Tiranti
Brain iron accumulation is the hallmark of a group of seriously invalidating and progressive rare diseases collectively denominated Neurodegeneration with Brain Iron Accumulation (NBIA), characterized by movement disorder, painful dystonia, parkinsonism, mental disability and early death. Currently there is no established therapy available to slow down or reverse the progression of these conditions. Several genes have been identified as responsible for NBIA but only two encode for proteins playing a direct role in iron metabolism...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29396176/the-relevance-of-gene-panels-in-movement-disorders-diagnosis-a-lab-perspective
#7
REVIEW
Chiara Reale, Celeste Panteghini, Miryam Carecchio, Barbara Garavaglia
Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29395073/impaired-transferrin-receptor-palmitoylation-and-recycling-in-neurodegeneration-with-brain-iron-accumulation
#8
Anthony Drecourt, Joël Babdor, Michael Dussiot, Floriane Petit, Nicolas Goudin, Meriem Garfa-Traoré, Florence Habarou, Christine Bole-Feysot, Patrick Nitschké, Chris Ottolenghi, Metodi D Metodiev, Valérie Serre, Isabelle Desguerre, Nathalie Boddaert, Olivier Hermine, Arnold Munnich, Agnès Rötig
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive dystonia with iron accumulation in the basal ganglia. How NBIA-associated mutations trigger iron overload remains poorly understood. After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the abnormal recycling of transferrin receptor (TfR1) and the reduction of TfR1 palmitoylation in NBIA...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29325618/neurodegeneration-with-brain-iron-accumulation
#9
Susan J Hayflick, Manju A Kurian, Penelope Hogarth
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2 -associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#10
Ferenc Garzuly
INTRODUCTION AND AIM: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change. METHOD: Professional activities of Hallervorden and Spatz during and after the Nazi euthanasia program are presented. Also, the scientific efforts that led to the discovery of the genetic background of the disease and ultimately to its new name are highlighted...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29082105/a-case-of-beta-propeller-protein-associated-neurodegeneration-due-to-a-heterozygous-deletion-of-wdr45
#11
Andreas Hermann, Hagen H Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile, Tobias B Haack
BACKGROUND: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated neurodegeneration (BPAN). CASE REPORT: Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of WDR45 ...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28991683/a-new-pla2g6-mutation-in-a-family-with-infantile-neuroaxonal-dystrophy
#12
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, Duccio Maria Cordelli, Roberta Zuntini, Valentina Papa, Anna Maria Magistà, Monica Gagliardi, Radha Procopio, Aldo Quattrone, Grazia Annesi
Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis. PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14)...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28987166/neurodegeneration-with-brain-iron-accumulation
#13
REVIEW
Sarah Wiethoff, Henry Houlden
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group of inherited rare clinical and genetic entities. Clinical core symptoms comprise a combination of early-onset dystonia, pyramidal and extrapyramidal signs with ataxia, cognitive decline, behavioral abnormalities, and retinal and axonal neuropathy variably accompanying these core features. Increased nonphysiologic, nonaging-associated brain iron, most pronounced in the basal ganglia, is often termed the unifying characteristic of these clinically variable disorders, though occurrence and extent can be fluctuating or even absent...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28878728/patient-affected-by-beta-propeller-protein-associated-neurodegeneration-a-therapeutic-attempt-with-iron-chelation-therapy
#14
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
#15
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
#16
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
#17
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-patient-with-beta-propeller-protein-associated-neurodegeneration-a-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#18
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...
December 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28641177/a-30-year-history-of-mpan-case-from-russia
#19
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
#20
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
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