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Tytuł:
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Autorzy:
Potic A; Clinic for Child Neurology and Psychiatry, Department of Neurology, University of Belgrade, 6A Dr. Subotica Street, 11000, Belgrade, Serbia. .
Perrier S; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
Radovic T; University Children's Hospital, Department of Radiology, University of Belgrade, Belgrade, Serbia.
Gavrilovic S; University Clinical Centre of Serbia, Centre for Radiology and Magnetic Resonance, University of Belgrade, Belgrade, Serbia.
Ostojic J; Faculty of Medicine, Department of Radiology, University of Novi Sad, Novi Sad, Serbia.
Tran LT; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.
Schiffmann R; Texas Neurology, 6080 N Central Expy Ste 100, Dallas, TX, USA.
Bernard G; Departments of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Departments of Pediatrics and Human Genetics, McGill University, Montreal, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 13; Vol. 18 (1), pp. 187. Date of Electronic Publication: 2023 Jul 13.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Folic Acid Deficiency*/diagnosis
Folic Acid Deficiency*/drug therapy
Folic Acid Deficiency*/genetics
Neuroaxonal Dystrophies*
Epilepsy*/genetics
Humans ; Leucovorin/therapeutic use ; Folate Receptor 1/genetics ; Folate Receptor 1/therapeutic use
SCR Disease Name:
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Autorzy:
Dehnavi AZ; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Bemanalizadeh M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Kahani SM; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.
Ashrafi MR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Rohani M; Skull Base Research Center, The Five Senses Health Institute, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Heidari M; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Hosseinpour S; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Amini B; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Zokaei S; Dr. Farhud's Genetic Clinic, Tehran, Iran.; School of Advanced Medical Science, Islamic Azad University, Tehran, Iran.
Rezaei Z; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Aryan H; Dr. Farhud's Genetic Clinic, Tehran, Iran.; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Amanat M; Department of Neurology, Johns Hopkins Medicine, Baltimore, MD, USA.
Vahidnezhad H; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Mohammadi P; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran.; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran.
Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran. .
Tavasoli AR; Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. .; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. .; Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran, Iran. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 05; Vol. 18 (1), pp. 177. Date of Electronic Publication: 2023 Jul 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neuroaxonal Dystrophies*/genetics
Parkinsonian Disorders*/genetics
Adult ; Child ; Humans ; Genotype ; Group VI Phospholipases A2/genetics ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Folate receptor alpha autoantibodies in children with autism spectrum disorder.
Autorzy:
Phunsawat P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Chiangjong W; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Chutipongtanate S; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Dumrongwongsiri O; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Thommachot P; Department of Psychiatry, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Butdawong W; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Chuthapisith J; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
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Źródło:
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals [Biomarkers] 2022 Dec; Vol. 27 (8), pp. 715-719. Date of Electronic Publication: 2022 Sep 27.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Neuroaxonal Dystrophies*
Child ; Female ; Humans ; Male ; Autoantibodies ; Folate Receptor 1 ; Folic Acid ; Child, Preschool
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status.
Autorzy:
Samanta D; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Ramakrishnaiah R; Department of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Frye RE; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
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Źródło:
Neurology India [Neurol India] 2022 Sep-Oct; Vol. 70 (5), pp. 2265-2267.
Typ publikacji:
Letter
MeSH Terms:
Folate Receptor 1*
Neuroaxonal Dystrophies*/genetics
Child ; Humans ; Mutation/genetics ; Folic Acid/therapeutic use
SCR Disease Name:
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A GLP1 receptor agonist diabetes drug ameliorates neurodegeneration in a mouse model of infantile neurometabolic disease.
Autorzy:
Poupon-Bejuit L; UCL School of Pharmacy, University College London, London, UK.
Hughes MP; UCL School of Pharmacy, University College London, London, UK.
Liu W; UCL School of Pharmacy, University College London, London, UK.
Geard A; UCL School of Pharmacy, University College London, London, UK.
Faour-Slika N; UCL School of Pharmacy, University College London, London, UK.
Whaler S; UCL School of Pharmacy, University College London, London, UK.
Massaro G; UCL School of Pharmacy, University College London, London, UK. .
Rahim AA; UCL School of Pharmacy, University College London, London, UK. .
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Źródło:
Scientific reports [Sci Rep] 2022 Aug 15; Vol. 12 (1), pp. 13825. Date of Electronic Publication: 2022 Aug 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Mellitus, Type 2*
Neuroaxonal Dystrophies*/genetics
Parkinsonian Disorders*/genetics
Animals ; Disease Models, Animal ; Dystonic Disorders ; Group VI Phospholipases A2/deficiency ; Mice
SCR Disease Name:
Dystonia-Parkinsonism, Adult-Onset
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cerebral Iron Deposition in Neurodegeneration.
Autorzy:
Dusek P; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, 120 00 Prague, Czech Republic.; Department of Radiology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, 120 00 Prague, Czech Republic.
Hofer T; Department of Environmental Health, Division of Climate and Health, Norwegian Institute of Public Health, P.O. Box 222, Skøyen, 0213 Oslo, Norway.
Alexander J; Department of Environmental Health, Division of Climate and Health, Norwegian Institute of Public Health, P.O. Box 222, Skøyen, 0213 Oslo, Norway.
Roos PM; Institute of Environmental Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Physiology, St. Goran Hospital, 112 81 Stockholm, Sweden.
Aaseth JO; Research Department, Innlandet Hospital Trust, P.O. Box 104, 2381 Brumunddal, Norway.; Faculty of Health and Social Sciences, Inland Norway University of Applied Sciences, P.O. Box 400, 2418 Elverum, Norway.
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Źródło:
Biomolecules [Biomolecules] 2022 May 17; Vol. 12 (5). Date of Electronic Publication: 2022 May 17.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Iron Metabolism Disorders*/pathology
Neuroaxonal Dystrophies*/pathology
Neurodegenerative Diseases*/pathology
Brain/pathology ; Humans ; Iron/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Autorzy:
Borja N; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Bivona S; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Peart LS; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Johnson B; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Gonzalez J; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Barbouth D; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Moore H; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Guo S; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Bademci G; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
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Corporate Authors:
Undiagnosed Disease Network
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1892. Date of Electronic Publication: 2022 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
Group VI Phospholipases A2*/genetics
Group VI Phospholipases A2*/metabolism
Lamin Type B*/genetics
Lamin Type B*/metabolism
Neuroaxonal Dystrophies*/genetics
Neuroaxonal Dystrophies*/metabolism
Adult ; Base Sequence ; Heterozygote ; Humans ; RNA Splice Sites ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Oral nimodipine treatment has no effect on amyloid pathology or neuritic dystrophy in the 5XFAD mouse model of amyloidosis.
Autorzy:
Sadleir KR; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States of America.
Popovic J; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States of America.
Khatri A; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States of America.
Vassar R; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Feb 02; Vol. 17 (2), pp. e0263332. Date of Electronic Publication: 2022 Feb 02 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Models, Animal*
Alzheimer Disease/*drug therapy
Neurites/*drug effects
Neuroaxonal Dystrophies/*drug therapy
Nimodipine/*administration & dosage
Plaque, Amyloid/*drug therapy
Administration, Oral ; Alzheimer Disease/pathology ; Animals ; Calcium Channel Blockers/administration & dosage ; Female ; Humans ; Male ; Mice ; Mice, Transgenic ; Neurites/pathology ; Neuroaxonal Dystrophies/pathology ; Plaque, Amyloid/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
Autorzy:
Noda M; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
Ito H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan. .; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2021 Nov 19; Vol. 11 (1), pp. 22568. Date of Electronic Publication: 2021 Nov 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Nerve Degeneration*
Neurogenesis*
Brain/*metabolism
Carrier Proteins/*metabolism
Iron Metabolism Disorders/*metabolism
Neuroaxonal Dystrophies/*metabolism
Animals ; Axons/metabolism ; Axons/pathology ; Brain/embryology ; COS Cells ; Carrier Proteins/genetics ; Chlorocebus aethiops ; Dendrites/metabolism ; Dendrites/pathology ; Electrical Synapses/metabolism ; Electrical Synapses/pathology ; Gene Expression Regulation, Developmental ; Gene Knockout Techniques ; Gestational Age ; Iron Metabolism Disorders/embryology ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/pathology ; Mice, Inbred ICR ; Neuroaxonal Dystrophies/embryology ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/pathology ; Signal Transduction ; Mice
SCR Disease Name:
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and/or Refractory Epilepsy.
Autorzy:
Nemati H; Shiraz Neuroscience Research Center; Division of Pediatric Neurology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Boroujeni AF; Pediatric Neurologist, Shahrkord University of Medical Sciences, Shahrkord, Iran.
Inaloo S; Division of Pediatric Neurology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Katibeh P; Division of Pediatric Neurology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Shahriari M; Division of Pediatric Hematology-Oncology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
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Źródło:
Neurology India [Neurol India] 2021 Sep-Oct; Vol. 69 (5), pp. 1343-1348.
Typ publikacji:
Journal Article
MeSH Terms:
Drug Resistant Epilepsy*
Neuroaxonal Dystrophies*
Child ; Cross-Sectional Studies ; Female ; Folate Receptor 1 ; Folic Acid ; Humans ; Male ; Vitamin B 12
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
Autorzy:
Tarnacka B; Department of Rehabilitation Medicine, Faculty of Medicine, Warsaw Medical University, Spartańska 1, 02-637 Warsaw, Poland.
Jopowicz A; Department of Rehabilitation, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
Maślińska M; Department of Early Arthritis, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Ceruloplasmin/*deficiency
Copper/*adverse effects
Iron/*adverse effects
Iron Metabolism Disorders/*pathology
Manganese/*adverse effects
Metabolic Diseases/*pathology
Neuroaxonal Dystrophies/*pathology
Neurodegenerative Diseases/*pathology
Humans ; Iron Metabolism Disorders/chemically induced ; Iron Metabolism Disorders/etiology ; Manganese Poisoning/complications ; Metabolic Diseases/chemically induced ; Metalloproteins/metabolism ; Neuroaxonal Dystrophies/chemically induced ; Neurodegenerative Diseases/etiology ; Oxidative Stress
SCR Disease Name:
Familial apoceruloplasmin deficiency; Hypermanganesemia with Dystonia Polycythemia and Cirrhosis; Neuroferritinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Autorzy:
Kurzawa-Akanbi M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Keogh M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
Tsefou E; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Ramsay L; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
Johnson M; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Keers S; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Wsa Ochieng L; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
McNair A; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Singh P; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
Khan A; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Pyle A; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Hudson G; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Ince PG; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
Attems J; Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Burn J; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
Chinnery PF; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
Morris CM; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
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Źródło:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2021 Feb; Vol. 47 (1), pp. 26-42. Date of Electronic Publication: 2020 Jun 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Apoferritins/*metabolism
Brain/*drug effects
Iron/*metabolism
Iron Metabolism Disorders/*metabolism
Neuroaxonal Dystrophies/*metabolism
Animals ; Apoferritins/chemistry ; Apoferritins/genetics ; Brain/pathology ; Disease Models, Animal ; Ferritins/chemistry ; Ferritins/genetics ; Ferritins/metabolism ; Humans ; Iron Metabolism Disorders/pathology ; Middle Aged ; Mitochondria/drug effects ; Mitochondria/metabolism ; Mutation/genetics ; Neuroaxonal Dystrophies/pathology ; Neurodegenerative Diseases/pathology ; Oxidative Stress/drug effects ; Protein Aggregates/physiology
SCR Disease Name:
Neuroferritinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Autorzy:
Correa-Vela M; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
Lupo V; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Montpeyó M; Neurodegenerative diseases-CIBERNED, Vall d´Hebron, Institut de Recerca, Barcelona, Spain.
Sancho P; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Marcé-Grau A; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.
Hernández-Vara J; Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Darling A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Jenkins A; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Fernández-Rodríguez S; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Tello C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Ramírez-Jiménez L; Unit of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Pérez B; Department of Molecular Biology, Centro de Biología Molecular Severo-Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBER on Rare Diseases (CIBERER), Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), Madrid, Spain.
Sánchez-Montáñez Á; Department of Pediatric Radiology, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
Macaya A; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
Sobrido MJ; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Fundación Pública Galega de Medicina Xenómica, and CIBER on Rare Diseases (CIBERER), Santiago de Compostela, Spain.
Martinez-Vicente M; Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Pérez-Dueñas B; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
Espinós C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Aug; Vol. 7 (8), pp. 1436-1442. Date of Electronic Publication: 2020 Aug 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Iron Metabolism Disorders*/enzymology
Iron Metabolism Disorders*/genetics
Iron Metabolism Disorders*/pathology
Iron Metabolism Disorders*/physiopathology
Neuroaxonal Dystrophies*/enzymology
Neuroaxonal Dystrophies*/genetics
Neuroaxonal Dystrophies*/pathology
Neuroaxonal Dystrophies*/physiopathology
Parkinsonian Disorders*/enzymology
Parkinsonian Disorders*/genetics
Parkinsonian Disorders*/pathology
Parkinsonian Disorders*/physiopathology
F-Box Proteins/*genetics
Proteasome Endopeptidase Complex/*metabolism
Adult ; Consanguinity ; Epilepsy/enzymology ; Epilepsy/genetics ; Epilepsy/pathology ; Epilepsy/physiopathology ; Female ; Humans ; Paraplegia/enzymology ; Paraplegia/genetics ; Paraplegia/pathology ; Paraplegia/physiopathology ; Spinocerebellar Degenerations/enzymology ; Spinocerebellar Degenerations/genetics ; Spinocerebellar Degenerations/pathology ; Spinocerebellar Degenerations/physiopathology ; Syndrome ; Young Adult
SCR Disease Name:
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
Autorzy:
Atwal PS; Retrotope Inc., Los Altos, CA, USA. .
Midei M; Retrotope Inc., Los Altos, CA, USA.
Adams D; Atlantic Medical Group, Morris Township, NJ, USA.
Fay A; University of California San Francisco (UCSF), San Francisco, CA, USA.
Heerinckx F; Retrotope Inc., Los Altos, CA, USA.
Milner P; Retrotope Inc., Los Altos, CA, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jul 29; Vol. 15 (1), pp. 195. Date of Electronic Publication: 2020 Jul 29.
Typ publikacji:
Journal Article
MeSH Terms:
Neuroaxonal Dystrophies*/diagnosis
Neuroaxonal Dystrophies*/genetics
Child ; Humans ; Peripheral Nerves
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Palliative care in 9 children with neurodegeneration with brain iron accumulation.
Autorzy:
Dangel T; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland. .
Kmieć T; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland.
Januszaniec A; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
Ważny B; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 653-660. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Home Care Services*
Iron Metabolism Disorders/*therapy
Neuroaxonal Dystrophies/*therapy
Neuromuscular Agents/*pharmacology
Palliative Care/*methods
Adolescent ; Bone Diseases/drug therapy ; Bone Diseases/etiology ; Botulinum Toxins/pharmacology ; Child ; Dystonia/drug therapy ; Dystonia/etiology ; Female ; Humans ; Iron Metabolism Disorders/complications ; Iron Metabolism Disorders/drug therapy ; Iron Metabolism Disorders/nursing ; Male ; Muscle Spasticity/drug therapy ; Muscle Spasticity/etiology ; Musculoskeletal Pain/drug therapy ; Musculoskeletal Pain/etiology ; Neuroaxonal Dystrophies/complications ; Neuroaxonal Dystrophies/drug therapy ; Neuroaxonal Dystrophies/nursing
SCR Disease Name:
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The natural history of infantile neuroaxonal dystrophy.
Autorzy:
Altuame FD; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Foskett G; Retrotope Inc., Los Altos, CA, USA.
Atwal PS; Retrotope Inc., Los Altos, CA, USA. .
Endemann S; Retrotope Inc., Los Altos, CA, USA.
Midei M; Retrotope Inc., Los Altos, CA, USA.
Milner P; Retrotope Inc., Los Altos, CA, USA.
Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Hamad M; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al-Muhaizea M; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 01; Vol. 15 (1), pp. 109. Date of Electronic Publication: 2020 May 01.
Typ publikacji:
Journal Article
MeSH Terms:
Neuroaxonal Dystrophies*/genetics
Neurodegenerative Diseases*
Child, Preschool ; Europe ; Humans ; Mutation/genetics ; Saudi Arabia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
Autorzy:
Kaur J; Department of Neurology, Dayanand Medical College & Hospital, Civil Lines, Ludhiana, India.
Parveen S; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
Shamim U; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
Suroliya V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Sonkar AK; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Ahmad I; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Garg J; Department of Neurology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Anand KS; Department of Neurology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Laskar S; Departmentt of Neurology, Safdurjung Hospital, Delhi, India.
Chowdhury D; Department of Neurology, GB Pant Hospital, Delhi, India.
Kushwaha S; Department of Neurology, Institute of Human Behaviour and Allied Sciences, Delhi, India.
Goyal V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Srivastava AK; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Singh G; Department of Neurology, Dayanand Medical College & Hospital, Civil Lines, Ludhiana, India.
Faruq M; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
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Źródło:
Journal of Huntington's disease [J Huntingtons Dis] 2020; Vol. 9 (3), pp. 283-289.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Heredodegenerative Disorders, Nervous System/*diagnosis
Huntington Disease/*diagnosis
Iron Metabolism Disorders/*diagnosis
Neuroaxonal Dystrophies/*diagnosis
Trinucleotide Repeat Expansion/*genetics
Adult ; Female ; Genetic Testing ; Heredodegenerative Disorders, Nervous System/genetics ; Humans ; Huntingtin Protein ; Huntington Disease/genetics ; India ; Iron Metabolism Disorders/genetics ; Male ; Middle Aged ; Nerve Tissue Proteins ; Neuroaxonal Dystrophies/genetics ; Protein Phosphatase 2 ; TATA-Box Binding Protein
SCR Disease Name:
Huntington Disease-Like Syndrome; Neuroferritinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Autorzy:
Gregory A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Lotia M; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
Jeong SY; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Fox R; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Zhen D; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Sanford L; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Hamada J; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Jahic A; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
Beetz C; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
Freed A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Kurian MA; Developmental Neurosciences, GOSH-Institute of Child Health, UCL & Department of Neurology, Great Ormond Street Hospital, London, UK.
Cullup T; North East Thames Regional Genetics Laboratory, London, UK.
van der Weijden MCM; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.
Nguyen V; Pathology, Oregon Health & Science University, Portland, Oregon.
Setthavongsack N; Pathology, Oregon Health & Science University, Portland, Oregon.
Garcia D; Pathology, Oregon Health & Science University, Portland, Oregon.
Krajbich V; Pathology, Oregon Health & Science University, Portland, Oregon.
Pham T; Pathology, Oregon Health & Science University, Portland, Oregon.
Woltjer R; Pathology, Oregon Health & Science University, Portland, Oregon.
George BP; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Departments of Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York.
Hogarth P; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Jankovic J; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
Hayflick SJ; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00736. Date of Electronic Publication: 2019 May 13.
Typ publikacji:
Journal Article
MeSH Terms:
Iron Metabolism Disorders/*genetics
Membrane Proteins/*genetics
Mitochondrial Proteins/*genetics
Neuroaxonal Dystrophies/*genetics
Adult ; Brain ; Codon, Nonsense/genetics ; Cohort Studies ; Family ; Female ; Genes, Dominant/genetics ; Heterozygote ; Humans ; Iron Metabolism Disorders/metabolism ; Male ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Mutation ; Neuroaxonal Dystrophies/metabolism ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Pedigree
SCR Disease Name:
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status.
Autorzy:
Samanta D; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.
Ramakrishnaiah R; Division of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.
Frye RE; Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little rock, Arkansas, USA.
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Źródło:
Neurology India [Neurol India] 2019 Jan-Feb; Vol. 67 (1), pp. 259-260.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Brain/*pathology
Folate Receptor 1/*deficiency
Mutation/*genetics
Neuroaxonal Dystrophies/*genetics
Neuroaxonal Dystrophies/*pathology
Adolescent ; Fatal Outcome ; Folate Receptor 1/genetics ; Humans ; Male ; Neuroaxonal Dystrophies/diagnosis
SCR Disease Name:
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Missense Mutation in the Vacuolar Protein Sorting 11 ( VPS11 ) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs.
Autorzy:
Lucot KL; Departments of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616.
Dickinson PJ; Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616.
Finno CJ; Departments of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616.
Mansour TA; Departments of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616.
Letko A; Department of Clinical Research and Veterinary Public Health, University of Bern, 3001 Bern, Switzerland.
Minor KM; Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Minneapolis, MN 55455.
Mickelson JR; Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Minneapolis, MN 55455.
Drögemüller C; Department of Clinical Research and Veterinary Public Health, University of Bern, 3001 Bern, Switzerland.
Brown CT; Departments of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616.
Bannasch DL; Departments of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2018 Jul 31; Vol. 8 (8), pp. 2773-2780. Date of Electronic Publication: 2018 Jul 31.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Dog Diseases/*genetics
Neuroaxonal Dystrophies/*genetics
Vesicular Transport Proteins/*genetics
Animals ; Chromosomes/genetics ; Dog Diseases/pathology ; Dogs ; Haplotypes ; Neuroaxonal Dystrophies/pathology ; Neuroaxonal Dystrophies/veterinary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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