A neurodegeneração com acumulação cerebral de ferro (NBIA, antigamente síndrome de Hallervorden-Spatz) abrange um grupo de doenças neurodegenerativas raras caracterizadas por disfunção extrapiramidal progressiva (distonia, rigidez, coreoatetose), acumulação de ferro no cérebro e presença de esferóides axonais, geralmente limitados ao sistema nervoso central.
Introdução
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A neurodegeneração com acumulação cerebral de ferro (NBIA, antigamente síndrome de Hallervorden-Spatz) abrange um grupo de doenças neurodegenerativas raras caracterizadas por disfunção extrapiramidal progressiva (distonia, rigidez, coreoatetose), acumulação de ferro no cérebro e presença de esferóides axonais, geralmente limitados ao sistema nervoso central.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 170 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 388 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked dominant.
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223)
Cytoplasmic vesicle, autophagosomeCytoplasmAutolysosome
Hyperferritinemia with or without cataract
An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubMed:17355976, PubMed:22517924). FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids (PubMed:22517924). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis o
Endoplasmic reticulum membraneMicrosome membrane
Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.
Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network
CytoplasmCytoplasm, cytoskeleton
Hypoparathyroidism-retardation-dysmorphism syndrome
An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism.
ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:31996848). Plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Contributes to cellular zinc homeostasis (PubMed:24603074). Confers cellular protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress (PubMed:26134396). Required for pr
Lysosome membraneLate endosome membraneEndosome, multivesicular body membraneCytoplasmic vesicle, autophagosome membrane
Kufor-Rakeb syndrome
A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.
Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta-oxidation (PubMed:15099582, PubMed:29395073). Responsible for the synthesis of short- and branched-chain acylcarnitines (PubMed:23485643). Active towards some branched-chain amino acid oxidation pathway (BCAAO) intermediates (PubMed:23485643). Trans-2-enoyl-CoAs and 2-methylacyl-CoAs are poor substrates (PubMe
Endoplasmic reticulumPeroxisomeMitochondrion inner membraneMitochondrion
Neurodegeneration with brain iron accumulation 8
A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance.
Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane (PubMed:16150804). Copper ions provide a large number of enzymatic activites. Oxidizes highly toxic ferrous ions to the ferric state for further incorporation onto apo-transferrins, catalyzes Cu(+) oxidation and promotes the oxidation of biogenic amines such as norepin
Secreted
Aceruloplasminemia
An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.
May coordinate the cellular actions of activated EGF receptors and Ral-GTPases
Membrane, clathrin-coated pit
Neurodegeneration with brain iron accumulation 7
A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance.
MitochondrionMitochondrion membraneEndoplasmic reticulumCytoplasm, cytosol
Neurodegeneration with brain iron accumulation 4
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex
MembraneNucleus, nucleolus
Woodhouse-Sakati syndrome
A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome.
Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:23435086, PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) (PubMed:28561066). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes (PubMed:28561066).
Preautophagosomal structureCytoplasm
Neurodegeneration with brain iron accumulation 5
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.
Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 or sn-2 position of phospholipids (phospholipase A1 and A2 activity respectively), producing lysophospholipids that are used in deacylation-reacylation cycles (PubMed:10092647, PubMed:10336645, PubMed:20886109, PubMed:9417066). Hydrolyzes both saturated and unsa
CytoplasmCell membraneMitochondrionCell projection, pseudopodium
Neurodegeneration with brain iron accumulation 2B
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubM
CytoplasmLysosomeCytoplasmic vesicle, autophagosome
Hemochromatosis 5
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, PubMed:17825826). Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726) Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzym
MitochondrionMitochondrion intermembrane spaceNucleusCytoplasm
Neurodegeneration with brain iron accumulation 1
Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.
Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA
Cytoplasm, cytosolMitochondrion matrix
Neurodegeneration with brain iron accumulation 6
A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism.
Variantes genéticas (ClinVar)
358 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,118 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
24 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neurodegenerescência com acúmulo cerebral de ferro
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
14 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Opisthotonus: Revisiting a classic movement disorder.
Opisthotonus is characterized by backward arching of the trunk, associated with retrocollis, caused by involuntary contractions of extensor paraspinal muscles. Classical etiologies include tetanus, strychnine intoxication, dystonia (particularly tardive dystonia and neurodegeneration with brain iron accumulation), seizures, and functional movement disorders (MDs). Inborn errors of metabolism, epileptic encephalopathies and other gene mutations should be considered in newborns and infants presenting with opisthotonus. We surveyed 1216 consecutive patients presenting for evaluation in a tertiary care center for MDs and identified 17 (1.4%) with opisthotonus. Functional opisthotonus represented the most common cause, present in 9 (53%) patients. Other etiologies included tardive dystonia (n = 2), dystonia secondary to cavernous hemangioma in the basal ganglia (n = 1), dystonia due to hypoxic encephalopathy (n = 1), and 4 with idiopathic dystonia. Identifying the underlying etiology of opisthotonus is important to guide therapeutic strategies. Benzodiazepines, baclofen, anticholinergics, and botulinum toxin are common pharmacological options, whereas deep brain stimulation and surgical correction of the underlying cause should be considered in selected cases.
A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
Recently, gain- or loss-of-function variants in the calcium voltage-gated channel subunit alpha1I gene (CACNA1I) have been shown to cause neurodevelopmental disorders. As only 10 cases have been reported to date, clinical information remains limited. This article describes a patient carrying a previously identified CACNA1I variant (NM_021096.4: c.2579T>A, p.Ile860Asn). Notably, our patient exhibited previously unreported clinical findings resembling those observed in disorders associated with other CACNA1 family members, suggesting that these features may be characteristic of this disorder. Brain MRI revealed previously unreported excess iron accumulation in the globus pallidus and substantia nigra. These findings indicate that this disorder may be part of the spectrum of neurodegeneration with brain iron accumulation.
A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.
Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA. Among them, WDR45, linked to beta-propeller protein-associated neurodegeneration (BPAN), represents the only X-linked dominant subtype of NBIA. Herein, clinical, electrophysiological, and neuroimaging evaluations were used to broaden the understanding of BPAN in a newly reported case series. This study included 10 individuals with BPAN, categorized into three age groups. WDR45 variant data retrieved from next-generation sequencing or Sanger sequencing were reviewed and reassessed. Comprehensive clinical evaluations including magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG-PET), and video electroencephalographic monitoring were conducted. The clinical manifestations were highly heterogeneous, with cognitive impairment being a consistent finding among the patients, with variable severity. The associated WDR45 variants are likely to exert loss-of-function effects. Electroencephalogram (EEG) abnormalities included age-dependent background slowing and epileptiform discharges. MRI indicated a characteristic pattern, while two patients lacked these typical findings. FDG-PET imaging demonstrated hypometabolism extending beyond cerebral structures, with predominant cerebellar and pontine involvement in pediatric patients and frontoparietal hypometabolism in adults. This study contributes further to our understanding of the heterogeneous clinical spectrum of BPAN. Genotype-phenotype correlation in BPAN remains unclear due to the absence of sufficiently large cohorts in the literature, including the present study. Nevertheless, even within this small sample, the phenotypic heterogeneity observed among individuals harboring the same genotype highlights the biological complexity of the disease. Neuroimaging findings may reflect progressive and widespread neurological involvement in an age-dependent pattern, whereas EEG data suggest that epilepsy severity tends to decrease after adolescence.
Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.
Disruption of intracellular iron homeostasis through mitochondrial dysfunction associated with suppression of ATP 13A2 expression.
Elevated iron in the SNpc may play a key role in Parkinson's disease (PD) neurodegeneration, yet the underlying mechanism accounting for this iron accumulation is unclear. Although iron is an essential element, excessive amounts produce toxicity. Here, we focused on the role of iron and ATP13A2, the causative gene of PARK9 neurodegeneration with brain iron accumulation, using a cellular model. ATP13A2 deficiency resulted in impaired lysosomal function and iron accumulation in cell organelles. Further, we found dysfunction of mitophagy, which is involved in managing mitochondrial quality, as well as mitochondrial damage. Furthermore, we confirmed a decreased heme synthesis capacity, which is important to maintain intracellular iron homeostasis. Overall, our study indicates that lysosome-derived mitochondrial impairment can disrupt intracellular iron homeostasis in a cell model of PD pathology. This could help better understand the mechanisms underlying PD.
Publicações recentes
Neuropathologic Characterisation of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) With Coexisting α-Synuclein and Tau Pathology in a Young Adult.
PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunction.
Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.
Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).
Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation.
📚 EuropePMC181 artigos no totalmostrando 198
Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.
Parkinsonism & related disordersExpanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.
Indian journal of pediatricsOpisthotonus: Revisiting a classic movement disorder.
Journal of the neurological sciencesFTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.
Movement disorders clinical practiceDisruption of intracellular iron homeostasis through mitochondrial dysfunction associated with suppression of ATP 13A2 expression.
Scientific reportsInflammation and oligoclonal bands in cerebrospinal fluid in neurodegeneration associated with C19orf12 mutations.
Parkinsonism & related disordersAutophagy-related proteomics reveals lysosomal alterations linked to C19orf12 mutations and candidate biomarkers in MPAN patients' fibroblasts.
Neurobiology of diseaseGeneration of two induced pluripotent stem cell lines (FDCHi011-A and FDCHi016-A) from different patients with NBIA5 syndrome carrying WDR45 m.700C > T and m.888G > A mutation.
Stem cell researchNeurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.
Journal of neuroimaging : official journal of the American Society of NeuroimagingDistinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.
CellsIron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.
Molecular neurobiologyLoss of mouse C19orf12 homolog disturbs tubular ER homeostasis and leads to neuroaxonal dystrophy.
Acta neuropathologica communicationsQSM-Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation.
Movement disorders clinical practiceA Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
Clinical geneticsFunctional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).
Molecular genetics and metabolismA Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.
Annals of clinical and translational neurologyBiallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation.
Movement disorders : official journal of the Movement Disorder SocietyA Typical Neuroaxonal Dystrophy or an Atypical Form of Huntington Disease?
Pediatric neurologyFocus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.
GenesTargeting ferroptosis for neuroprotection: potential therapeutic avenues in neurodegenerative and neuropsychiatric diseases.
Frontiers in physiologyPatient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyAn Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.
Brain sciencesQuantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.
Annals of clinical and translational neurologyWhole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family.
NeurogeneticsA Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report.
Reports (MDPI)Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.
Current issues in molecular biologyInfantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.
AIMS neuroscienceNeuroferritinopathy Human-Induced Pluripotent Stem Cell-Derived Astrocytes Reveal an Active Role of Free Intracellular Iron in Astrocyte Reactivity.
International journal of molecular sciencesAdult-Onset PLA2G6-Associated Neurodegeneration (PLAN): A Clinical, Imaging and Genetic Profile Review.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesNeurodegeneration with Brain Iron Accumulation.
Advances in experimental medicine and biologyCharacterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.
PloS oneSignificant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the WDR45 c.400C>T mutation.
Clinical parkinsonism & related disordersNovel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.
Movement disorders clinical practiceSusceptibility-Weighted Imaging (SWI): Technical Aspects and Applications in Brain MRI for Neurodegenerative Disorders.
Bioengineering (Basel, Switzerland)Expanding the Phenotypic Horizon of VAC14-Related Neurodegeneration.
Movement disorders clinical practice[Neurodegeneration Associated with Metal Metabolism].
Brain and nerve = Shinkei kenkyu no shinpoConsensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN).
Journal of child neurologyConservative iron chelation for VAC14: Two-year clinical-radiological follow-up.
Journal of Parkinson's diseaseFibroblasts and hiPS-Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype.
GliaVery Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.
Movement disorders clinical practiceBiotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.
International journal of molecular sciencesNeurodegeneration with brain iron accumulation 5: report of three cases.
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Orphanet journal of rare diseasesC19orf12 gene mutation with neuropsychiatric symptoms: a case report.
NeurocaseGeneration of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene.
Stem cell researchWDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.
Journal of medical geneticsPatient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.
Tremor and other hyperkinetic movements (New York, N.Y.)Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).
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Rinsho shinkeigaku = Clinical neurologyDetermination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.
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Biochimica et biophysica acta. BioenergeticsWDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).
Biochimica et biophysica acta. Molecular cell researchFunctional impairments in NBIA patients: Preliminary results.
Intractable & rare diseases researchUnderstanding the Mechanism of Ferroptosis in Neurodegenerative Diseases.
Frontiers in bioscience (Landmark edition)Iron Dyshomeostasis in Neurodegeneration with Brain Iron Accumulation (NBIA): Is It the Cause or the Effect?
CellsThe Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.
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CureusTeaching NeuroImage: Imaging in VAC14-Associated Neurodegeneration With Brain Iron Accumulation Resembles a Comet Tail.
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NeurologyMitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes.
Cell death & diseaseA c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN).
HeliyonEmerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Annals of clinical and translational neurologyA Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings.
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Annals of clinical and translational neurologyGlobus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant: A Case Report.
Neurology. GeneticsNovel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyFerritinophagy: Assessing the Selective Degradation of Iron by Autophagy in Human Fibroblasts.
Journal of visualized experiments : JoVEHereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
Journal of pediatric endocrinology & metabolism : JPEMNazo, the Drosophila homolog of the NBIA-mutated protein-c19orf12, is required for triglyceride homeostasis.
PLoS geneticsWoodhouse-Sakati syndrome: A review.
Revue neurologiqueEstimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.
Movement disorders clinical practiceTranscranial sonography in neurodegeneration with brain iron accumulation disorders.
Clinical neurology and neurosurgeryTreatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report.
Brain & NeuroRehabilitationThe Spectrum of Inherited Gray Matter Degenerative Brain Disorders (DBD) in Children: A Single-Center Study.
Annals of Indian Academy of NeurologyNeurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure.
Movement disorders : official journal of the Movement Disorder SocietyDiagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review.
CureusPatient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration.
Pharmaceuticals (Basel, Switzerland)Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.
International journal of molecular sciencesPhenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Brain : a journal of neurologyCardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
bioRxiv : the preprint server for biologyHeterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
HGG advancesOlfactory status in neurodegeneration with brain iron accumulation disorders.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLate-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report.
Movement disorders clinical practiceα-Synuclein Strains and Their Relevance to Parkinson's Disease, Multiple System Atrophy, and Dementia with Lewy Bodies.
International journal of molecular sciencesA burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
AutophagyClinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study.
Annals of Indian Academy of NeurologyThe first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA systematic analysis of genotype-phenotype associations with PLA2G6.
Parkinsonism & related disordersThe expression of ceruloplasmin in astrocytes is essential for postnatal myelination and myelin maintenance in the adult brain.
GliaThe role of the PLA2G6 gene in neurodegenerative diseases.
Ageing research reviewsExome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Neurology. GeneticsClinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Parkinsonism & related disordersTargeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.
The International journal of neuroscienceA Brief History of NBIA Gene Discovery.
Journal of movement disordersAlpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Orphanet journal of rare diseasesExploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.
NPJ Parkinson's diseaseStudy design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
Frontiers in neurologyFatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
International journal of molecular sciencesSusceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign".
Movement disorders : official journal of the Movement Disorder SocietyA Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation.
Movement disorders clinical practiceNeurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
NeurogeneticsHeterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
medRxiv : the preprint server for health sciencesTime course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.
American journal of medical genetics. Part APLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children.
Pakistan journal of medical sciencesIdentification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
PharmaceuticsPathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
Journal of inherited metabolic diseaseVicious cycle of lipid peroxidation and iron accumulation in neurodegeneration.
Neural regeneration researchBi-Allelic Mutations in Zebrafish pank2 Gene Lead to Testicular Atrophy and Perturbed Behavior without Signs of Neurodegeneration.
International journal of molecular sciencesInteractions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders.
Neurobiology of diseaseExpanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.
AJNR. American journal of neuroradiologyCell-Specific Dysregulation of Iron and Oxygen Homeostasis as a Novel Pathophysiology in PSP.
Annals of neurologyAbnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder.
Pediatric neurologyClinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Frontiers in neurologyMutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
International journal of molecular sciencesBrain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.
BJR case reportsAtypical idiopathic NBIA (neurodegeneration with brain iron accumulation) associated with treatment-resistant bipolar mania responding to clozapine.
Bipolar disordersMutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.
International journal of molecular sciencesThiophosphate Analogs of Coenzyme A and Its Precursors-Synthesis, Stability, and Biomimetic Potential.
BiomoleculesLong-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy.
Journal of clinical medicineTherapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Orphanet journal of rare diseasesLong-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia.
Journal of movement disordersGeneration of a human induced pluripotent stem cell line NTUHi002-A from a patient with aceruloplasminemia harboring a homozygous splicing mutation c.607+1 delG in CP gene.
Stem cell researchSurgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature.
Tremor and other hyperkinetic movements (New York, N.Y.)Manic syndrome in mitochondrial membrane protein-associated neurodegeneration: A case report.
Psychiatry and clinical neurosciencesPLA2G6-associated neurodegeneration in four different populations-case series and literature review.
Parkinsonism & related disordersType 1 neurodegeneration with brain iron accumulation: a case report.
Journal of medical case reportsCerebral Iron Deposition in Neurodegeneration.
BiomoleculesNomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Movement disorders : official journal of the Movement Disorder SocietyGeneration of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene.
Stem cell researchA case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations.
Parkinsonism & related disordersGenetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Orphanet journal of rare diseasesA Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
BiomoleculesTwo cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
NeurocaseLifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
EBioMedicineVitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration.
Neurobiology of diseasePLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
Iranian journal of basic medical sciencesNeuropsychological profile associated to PKAN in its initial phase: a case series report.
NeurocaseSeizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesEye-of-the-Tiger Sign with an Unexpected Pathological Diagnosis.
Movement disorders clinical practiceLeucine encoding codon TTG shows an inverse relationship with GC content in genes involved in neurodegeneration with iron accumulation.
Journal of integrative neuroscienceNovel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.
NeurocaseTowards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.
Tremor and other hyperkinetic movements (New York, N.Y.)A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation.
Journal of neurochemistryMR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study.
NeuroImageQuantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
AutophagyPhysiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
Scientific reportsNeurodegenerative Disorders: Spotlight on Sphingolipids.
International journal of molecular sciencesNBIA Syndromes: A Step Forward from the Previous Knowledge.
Neurology IndiaRenaming of Hallervorden-Spatz disease: the second man behind the name of the disease.
Journal of neural transmission (Vienna, Austria : 1996)Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to ATP13A2 Mutation.
NeurologyPallidal degenerations and related disorders: an update.
Journal of neural transmission (Vienna, Austria : 1996)Severe Early-Onset Parkinsonian Syndrome Caused by PLA2G6 Heterozygous Variants.
Movement disorders clinical practiceChallenges in the approach and reporting of atypical manifestations of membrane protein-associated neurodegeneration (MPAN): An editorial.
Parkinsonism & related disordersC19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.
Parkinsonism & related disordersNeurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.
Brain & developmentCharacterization of sleep in six patients with pantothenate kinase-associated neurodegeneration.
Sleep medicineCharacteristic Neuroimaging Findings in β-propeller Protein-associated Neurodegeneration.
Journal of pediatric neurosciencesNew Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.
Frontiers in geneticsBroadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
Brain & development[Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsThe spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
AutophagyHigh efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Journal of medical geneticsNeurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesA comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Mammalian genome : official journal of the International Mammalian Genome SocietyDistal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
Clinical neurology and neurosurgeryRational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyDown regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.
Orphanet journal of rare diseasesEmerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.
Frontiers in neurologyWDR45, one gene associated with multiple neurodevelopmental disorders.
AutophagyTreat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA).
Frontiers in neurologyMitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.
Annals of Indian Academy of NeurologySpectrum of Truncal Dystonia and Response to Treatment: A Retrospective Analysis.
Annals of Indian Academy of NeurologyRetrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Parkinsonism & related disordersEye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders.
Journal of pediatric geneticsEarly-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.
Journal of pediatric neurosciencesThe European Reference Network for Rare Neurological Diseases.
Frontiers in neurologyGeneration of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.
Stem cell researchPathogenic mechanism and modeling of neuroferritinopathy.
Cellular and molecular life sciences : CMLSThe Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos.
Frontiers in cell and developmental biologyIron Chelation in Movement Disorders: Logical or Ironical.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesExploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.
International journal of molecular sciencesSPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
NeurogeneticsNeuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
International journal of molecular sciencesA severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.
Brain & developmentMolecular Defects in Friedreich's Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities.
Frontiers in molecular biosciencesDominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism & related disordersBeta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.
American journal of medical genetics. Part APrecision Medicine in Rare Diseases.
Diseases (Basel, Switzerland)Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability.
Neurology. GeneticsMitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
Antioxidants (Basel, Switzerland)Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.
Brain researchReprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Stem cell researchBrain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Opisthotonus: Revisiting a classic movement disorder.
- A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
- A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.
- Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.
- Disruption of intracellular iron homeostasis through mitochondrial dysfunction associated with suppression of ATP 13A2 expression.
- Neuropathologic Characterisation of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) With Coexisting α-Synuclein and Tau Pathology in a Young Adult.
- PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunction.
- Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.
- Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).
- Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:385(Orphanet)
- MONDO:0018307(MONDO)
- GARD:11899(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q16892735(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar