A neurodegeneração associada à pantotenato quinase (PKAN) é o tipo mais comum de neurodegeneração com acúmulo de ferro no cérebro (NBIA), uma doença neurodegenerativa rara caracterizada por disfunção extrapiramidal progressiva (como distonia, rigidez e coreoatetose), acúmulo de ferro no cérebro e dilatações nos axônios (fibras nervosas) do sistema nervoso central.
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A neurodegeneração associada à pantotenato quinase (PKAN) é o tipo mais comum de neurodegeneração com acúmulo de ferro no cérebro (NBIA), uma doença neurodegenerativa rara caracterizada por disfunção extrapiramidal progressiva (como distonia, rigidez e coreoatetose), acúmulo de ferro no cérebro e dilatações nos axônios (fibras nervosas) do sistema nervoso central.
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1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
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+ 53 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 120 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
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.
Variantes genéticas (ClinVar)
248 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
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🇧🇷 Atendimento SUS — Neurodegenerescência associada a pantotenato quinase
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Publicações mais relevantes
The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.
Coenzyme A (CoA), synthesized from pantothenate, is an essential cofactor required for numerous pivotal enzymatic reactions. Abnormal acylcarnitine profiles similar to those observed in carnitine palmitoyltransferase 1 (CPT1) deficiency have been reported in patients with coenzyme A synthetase (COASY)-related diseases and phosphopantothenoylcysteine synthetase (PPCS) deficiency. To the best our knowledge, a CPT1-like acylcarnitine profile has not yet been reported in patients with pantothenate kinase-associated neurodegeneration (PKAN). We aimed to evaluate whether the acylcarnitine profile could serve as a diagnostic clue for PKAN. All patients diagnosed with PKAN and followed at our center were included in the study. Clinical, biochemical, and genetic data were retrospectively extracted from medical records. The study cohort comprised five patients from five unrelated families. Three patients presented with classic PKAN, while two had atypical PKAN. CPT1-like acylcarnitine profiles were detected in patients with classic PKAN. Two patients exhibited elevated C0 and C0/(C16+C18) ratios; in one case, these values returned to normal during follow-up. In the third patient, only the C0/(C16 + C18) ratio was elevated, while C0 remained within the normal range. Different genetic variants were detected in our patients. Elevated C0 and/or elevated C0/(C16 + C18) ratio may serve as a diagnostic clue for PKAN, similar to other inherited disorders of CoA biosynthesis.
Rotatory "Head on Bed" Alleviates Pantothenate Kinase-Associated Neurodegeneration.
Pantothenate kinase-associated neurodegeneration (PKAN), an inborn error of coenzyme A (CoA) metabolism, represents the most common form of neurodegeneration with brain iron accumulation (NBIA). This rare neurodegenerative disorder involves progressive extrapyramidal dysfunction (eg, dystonia, rigidity, choreoathetosis), iron accumulation in the basal ganglia, and axonal spheroids within the central nervous system. Among more than 20 alternative names for PKAN, Hallervorden-Spatz disease remains the most familiar to nonspecialist practitioners. Mutations in PANK2, which encodes the mitochondrially targeted pantothenate kinase 2, cause this autosomal recessive disorder. Presenting symptoms often prompt clinical suspicion, which strengthens upon identification of the characteristic “eye-of-the-tiger” pattern—hypointense and hyperintense signals in the globus pallidus—on T2-weighted brain magnetic resonance imaging (MRI) sequences. Systemic and cerebrospinal fluid iron levels, along with plasma ferritin, transferrin, and ceruloplasmin, remain within normal ranges. Researchers have distinguished classic and atypical forms of PKAN. The classic form typically emerges in early childhood, usually by age 6, and leads to severe, rapidly worsening motor dysfunction. Most children who present early lose independent mobility and become wheelchair-bound by their mid-teens. The atypical form presents later, during childhood or adolescence, and progresses more slowly. Although symptom patterns vary, the atypical form more frequently involves speech disturbances and psychiatric manifestations than the classic type. Current treatment approaches—such as deep brain stimulation (DBS) and symptomatic medications (eg, baclofen, trihexyphenidyl)—focus on alleviating symptoms without modifying disease progression. Disease-modifying therapies remain in early development. Promising therapies targeting underlying metabolic dysfunction and iron accumulation hold potential for advances in PKAN management, although further clinical trials are needed to confirm their efficacy and safety.
Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.
Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.
Biomarker analysis in neurodegeneration with brain iron accumulation (NBIA) can offer valuable insights into the disease's pathology and natural history. Twenty-five patients with C19orf12 mutations causing mitochondrial membrane protein-associated neurodegeneration (MPAN), 12 patients with PANK2 mutations causing pantothenate kinase-associated neurodegeneration (PKAN), and 30 age- and gender-matched controls were studied. Serum levels of MMP-9, S100B, ICAM-1, E- and P-selectins, total α-synuclein, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), Tau, ubiquitin-C-terminal hydrolase-L1 (UCH-L1), and brain-derived neurotrophic factor (BDNF) were measured. Clinical status was evaluated with dedicated rating scales. Compared to the control group, MPAN patients had significantly higher serum levels of nearly all biomarkers, except BDNF. NfL, GFAP, and UCH-L1, were elevated by 5, 2, and 3.5 times, respectively. PKAN patients showed no significant differences in GFAP, UCH-L1, and S100B levels compared to controls. However, NfL and Tau levels were increased by 3 and 1.8 times, respectively. A correlation was observed between disease severity and levels of NfL, Tau, and UCH-L1 in MPAN, and GFAP, Tau, and UCH-L1 in PKAN. Patients with MPAN and PKAN showed increased levels of neurodegeneration biomarkers. Elevated inflammation and blood-brain barrier dysfunction biomarkers were specific to MPAN patients.
Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial.
Rare disease clinical trials are notorious for complexities that frequently result in study-start delays. However, there is limited knowledge about how participants and researchers perceive these delays and what factors shape their experiences. A clinical trial in the rare, progressive disorder Pantothenate Kinase-Associated Neurodegeneration-the PKAN trial-encountered an unexpected delay. As this delay caused noticeable challenges for both PKAN participants and researchers, we sought to unravel their experiences in order to mitigate the impact of a study-start delay in future trials. Fourteen semi-structured qualitative interviews were performed with PKAN participants (n = 9), represented by their caregivers or patient organisations, and researchers (n = 5) involved in the PKAN trial. During the delay, worries arose among some participants, which were directed towards the researchers. These participants expressed desperation to be included in the study in the early stages of the disease and held overly optimistic expectations for the PKAN trial. However, most participants did not experience a significant impact of the delay on their lives. On their side, the researchers mentioned the challenge of managing expectations while preserving hope. Most participants were satisfied with the communication; however, some participants highlighted concerns regarding the lack of transparency. Different interests between participants and researchers came to light during the delay. Some researchers advised providing background information on clinical trials, whereas all participants indicated that they did not need this information. Our study indicates that the delay in the start of the clinical trial had a significant effect on all the researchers and on some PKAN participants, especially those who urgently wanted the research to start, due to the pressure of the severe and progressive nature of the disorder. For these participants, there was a sense of discontent with how the researchers communicated, which made them feel that the researchers had different interests. This study also revealed that researchers had different perceptions of what information was needed than what participants wanted. To lessen the impact of such delays on participants and researchers, we recommend both honest and transparent communication and adjusting communication to meet participants' needs. Close collaboration between participants, patient organisations and researchers can help achieve this goal.
Publicações recentes
PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunction.
Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.
The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.
Gamifying motor recovery: virtual reality as a therapeutic ally in pantothenate kinase-associated neurodegeneration.
Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.
📚 EuropePMC237 artigos no totalmostrando 199
Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.
Parkinsonism & related disordersThe acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.
Molecular genetics and metabolismGamifying motor recovery: virtual reality as a therapeutic ally in pantothenate kinase-associated neurodegeneration.
Annals of medicine and surgery (2012)Neurodegeneration 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.
CellsVideo NeuroImage: Stereotypic Motor Behaviors in a Patient With Pantothenate Kinase-Associated Neurodegeneration.
NeurologyIron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.
Molecular neurobiologyModified Unified Wilson's Disease Rating Scale - scale presentation and pilot clinimetric testing.
Neurologia i neurochirurgia polskaMitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial.
Orphanet journal of rare diseasesParkinsonian phenotype in Late-onset pantothenate kinase-associated neurodegeneration: a case report.
Acta neurologica BelgicaFocus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.
GenesQuantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.
Annals of clinical and translational neurologyRare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.
Brain communicationsTargeting pantothenate kinases in human diseases: Biochemistry and pharmacotherapy.
Biochemical pharmacologyRotatory "Head on Bed" Alleviates Pantothenate Kinase-Associated Neurodegeneration.
Journal of movement disordersNeurodegeneration 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 oneMitochondrial and autophagic dysfunctions of skin fibroblasts derived from pantothenate kinase-associated neurodegeneration patients carrying PANK2 mutations and the rescuing effects of allantoin.
Parkinsonism & related disordersSerum metabolomics indicates ferroptosis in patients with pantothenate kinase associated neurodegeneration.
Scientific reportsVery Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.
Movement disorders clinical practice"Jack-Knife" Dystonia in Pantothenate Kinase-Associated Neurodegeneration.
NeurologyImpaired mitochondrial integrity and compromised energy production underscore the mechanism underlying CoASY protein-associated neurodegeneration.
Cellular and molecular life sciences : CMLSGlymphatic system in Pantothenase kinase associated neurodegeneration (PKAN).
Parkinsonism & related disordersPathology and treatment methods in pantothenate kinase-associated neurodegeneration.
Postepy psychiatrii neurologiiA therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
Orphanet journal of rare diseasesCase report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation.
Frontiers in human neurosciencePatient 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).
Biochimica et biophysica acta. Molecular basis of diseaseIntrathecal baclofen therapy as treatment for spasticity and dystonia: Review of cases in a pediatric palliative care unit.
NeurologiaMetabolic impairments in neurodegeneration with brain iron accumulation.
Biochimica et biophysica acta. BioenergeticsDevelopment of Brain Penetrant Pyridazine Pantothenate Kinase Activators.
Journal of medicinal chemistryRole of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.
ToxinsGenetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation.
ACS bio & med chem AuDeep brain stimulation for pediatric pantothenate kinase-associated neurodegeneration with status dystonicus: A case report and literature review.
Clinical neurology and neurosurgeryCase of Hallervorden-Spatz Syndrome: A Tale of Twin Sisters.
Neurology IndiaDyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report.
SAGE open medical case reportsBilateral Simultaneous Magnetic Resonance-Guided Focused Ultrasound Pallidotomy for Life-Threatening Status Dystonicus.
Movement disorders : official journal of the Movement Disorder SocietyDeep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration.
NeuropediatricsNovel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyIs the "Eye of Tiger" Really Emblematic of Pantothenate Kinase-Associated Neurodegeneration Type 1? An Uncommon MR Image in Wilson's Disease.
Neurology IndiaEstimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.
Movement disorders clinical practicePNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?
Neurologia i neurochirurgia polskaAtaxic gait and dysarthria in a child: pantothenate kinase-associated neurodegeneration as a diagnosis.
Oxford medical case reportsTranscranial 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 & NeuroRehabilitationOn the Role of Iron in Idiopathic Parkinson's Disease.
BiomedicinesNeurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure.
Movement disorders : official journal of the Movement Disorder SocietyPantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma.
CureusNovel utilization of deep brain stimulation in the pedunculopontine nucleus with globus pallidus internus for treatment of childhood-onset dystonia.
Frontiers in human neuroscienceThe first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
MedicineDiagnosis 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)Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration.
The Journal of pharmacology and experimental therapeuticsFemur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
Journal of pediatric orthopedicsPseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
American journal of medical genetics. Part APatient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Orphanet journal of rare diseasesOlfactory status in neurodegeneration with brain iron accumulation disorders.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe 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 NeurophysiologyTypical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.
Frontiers in neurologyCase report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD.
Frontiers in neurologyClinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Parkinsonism & related disordersAlpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Orphanet journal of rare diseasesInherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
International journal of molecular sciencesStudy design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
Frontiers in neurologyA surprising presentation of atypical pantothenate kinase-associated neurodegeneration disorder: metamorphopsia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEvidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress.
International journal of molecular sciencesBi-Allelic Mutations in Zebrafish pank2 Gene Lead to Testicular Atrophy and Perturbed Behavior without Signs of Neurodegeneration.
International journal of molecular sciencesConcurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.
Ophthalmic geneticsPKAN pathogenesis and treatment.
Molecular genetics and metabolismLong-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 diseasesCase Report: Dystonic Storm Following Japanese Encephalitis Virus Infection.
The American journal of tropical medicine and hygieneLong-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia.
Journal of movement disordersMitochondrial quality control links two seemingly unrelated neurodegenerative diseases.
AutophagyType 1 neurodegeneration with brain iron accumulation: a case report.
Journal of medical case reportsNovel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.
Neurology IndiaPantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism.
Nature communicationsNovel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Frontiers in aging neuroscienceCerebral and cerebellar white matter tract alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN).
Parkinsonism & related disordersDeep Brain Stimulation (DBS) with Subthalamic Nucleus (STN) as Target for Pediatric Patients with PKAN.
World neurosurgeryGenetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Orphanet journal of rare diseasesMassive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
Cell death & diseaseA Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
BiomoleculesProton magnetic resonance spectroscopy detects cerebral metabolic derangement in a mouse model of brain coenzyme a deficiency.
Journal of translational medicineSeizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesRedesigning therapies for pantothenate kinase-associated neurodegeneration.
The Journal of biological chemistryNovel 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.)NBIA Syndromes: A Step Forward from the Previous Knowledge.
Neurology India[Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaRenaming of Hallervorden-Spatz disease: the second man behind the name of the disease.
Journal of neural transmission (Vienna, Austria : 1996)The Coenzyme A Level Modulator Hopantenate (HoPan) Inhibits Phosphopantotenoylcysteine Synthetase Activity.
ACS chemical biologyCopper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
International journal of molecular sciencesConsensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
Developmental medicine and child neurologyAtypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.
HeliyonNeurodegeneration 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 medicineEye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28.
Movement disorders : official journal of the Movement Disorder SocietyChanges in Cerebral Gray and White Matter in Patients with Pantothenate Kinase-Associated Neurodegeneration: A Long-Term Magnetic Resonance Imaging Follow-Up Study.
Journal of movement disordersEye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.
Case reports in radiologyTurnover rate of coenzyme A in mouse brain and liver.
PloS oneRational 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 neurologyPsychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome.
Psychiatric geneticsSystematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases.
Frontiers in neuroscienceMagnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Brain communicationsEye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders.
Journal of pediatric geneticsFunctional connectivity of the motor system in dystonia due to PKAN.
eNeurologicalSciGeneration 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 researchExploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.
International journal of molecular sciencesNeuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
International journal of molecular sciencesCyclic Phosphopantothenic Acid Prodrugs for Treatment of Pantothenate Kinase-Associated Neurodegeneration.
Journal of medicinal chemistryAbnormal Vasculature Development in Zebrafish Embryos with Reduced Expression of Pantothenate Kinase 2 Gene.
Bulletin of experimental biology and medicineFosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyPANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family.
The International journal of neuroscienceTreatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase-Associated Neurodegeneration.
Movement disorders clinical practiceThe Case of a Patient with Pantothenate Kinase-Associated Neurodegeneration Presenting with a Prolonged History of Stuttering Speech and a Misdiagnosis of Parkinson's Disease.
Journal of movement disordersPilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study.
Orphanet journal of rare diseasesCerebral blood flow in dystonia due to pantothenate kinase-associated neurodegeneration.
The neuroradiology journalPKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Annals of clinical and translational neurologyHarmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
International journal of molecular sciencesAtypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
NeurocaseIntellectual Disability, Falls and Gait Disturbances: A Misdiagnosis.
European journal of case reports in internal medicineNatural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.
CNS neuroscience & therapeuticsThe History of Deferiprone (L1) and the Paradigm of the Complete Treatment of Iron Overload in Thalassaemia.
Mediterranean journal of hematology and infectious diseasesA pantothenate kinase-deficient mouse model reveals a gene expression program associated with brain coenzyme a reduction.
Biochimica et biophysica acta. Molecular basis of diseaseA rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.
Journal of the neurological sciencesCannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration.
Journal of child neurologySensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.
Movement disorders clinical practiceA Novel Mutation in Neurodegeneration with Brain Iron Accumulation - A Case Report.
Neurology IndiaNeuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report.
The International journal of neuroscience4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.
EMBO molecular medicine[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration].
Zhonghua yi xue za zhiContinuous Positive Airway Pressure Therapy in a Patient with Pantothenate-Kinase-Associated Neurodegeneration.
Journal of clinical neurology (Seoul, Korea)Rhythmic Tongue Thrusting: A Useful Clinical Sign.
Pediatric neurologyIncidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.
Molecular genetics and metabolismIron chelation in pantothenate kinase-associated neurodegeneration: A possible new avenue for slowing down disease progression in neurodegeneration.
Movement disorders : official journal of the Movement Disorder SocietyClinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery.
Journal of neurologyEye-of-the-tiger Sign in Neurodegeneration with Brain Iron Accumulation.
CureusTongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.
Pediatric neurologyAmantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesTwo siblings with atypical pantothenate-kinase-associated neurodegeneration.
Neurology IndiaNeuroacanthocytosis: a case report of chorea-acanthocytosis.
Journal of integrative neuroscienceDiagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.
Orphanet journal of rare diseasesDrug reduces excess iron in ultra-rare neurodegenerative disease.
Nature reviews. NeurologyNeuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.
Journal of neural transmission (Vienna, Austria : 1996)Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.
Journal of neural transmission (Vienna, Austria : 1996)Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration.
Journal of experimental neuroscienceSafety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
The Lancet. NeurologyDecreasing iron neurotoxicity in pantothenate kinase-associated neurodegeneration.
The Lancet. NeurologyNovel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAmelioration of Dystonic Opisthotonus in Pantothenate Kinase-Associated Neurodegeneration Syndrome with Absent "Eye-of-the-Tiger" Sign Following Bilateral Pallidal Deep Brain Stimulation.
Movement disorders clinical practiceThe FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
Clinical trials (London, England)A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.
Neurology internationalDisease-specific patterns of basal ganglia neuronal activity in Neurodegeneration with Brain Iron Accumulation type I (NBIA-1).
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyStatus dystonicus in pantothenate kinase-associated neurodegeneration due to internal pulse generator depletion: Case study and literature review.
Journal of the neurological sciencesA Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.
Movement disorders clinical practicePrecision medicine in pantothenate kinase-associated neurodegeneration.
Neural regeneration researchSubthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I).
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyInborn errors of coenzyme A metabolism and neurodegeneration.
Journal of inherited metabolic diseaseNovel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.
MedicineDeep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis.
Movement disorders : official journal of the Movement Disorder SocietyDental appliance therapy in pantothenate kinase-associated neurodegeneration: Case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryMagnetic resonance imaging, susceptibility weighted imaging and quantitative susceptibility mapping findings of pantothenate kinase-associated neurodegeneration.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaParkinson's Disease and Metal Storage Disorders: A Systematic Review.
Brain sciencesPotential Treatment of Retinal Diseases with Iron Chelators.
Pharmaceuticals (Basel, Switzerland)A therapeutic approach to pantothenate kinase associated neurodegeneration.
Nature communicationsNew Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases.
Pharmaceuticals (Basel, Switzerland)[Anesthesia in patients with NBIA : Neurodegeneration with brain iron accumulation].
Der AnaesthesistSilencing of pantothenate kinase 2 reduces endothelial cell angiogenesis.
Molecular medicine reportsPantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.
Molecular neurobiologyOverexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.
Neuromolecular medicineAcanthocytosis in progressive childhood dystonia.
Neurology IndiaNovel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
The International journal of neurosciencePantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.
Neurology internationalBotulinum toxin injection to improve functional independence and to alleviate parenting stress in a child with advanced pantothenate kinase-associated neurodegeneration: A case report and literature review.
MedicineBotulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report.
Annals of rehabilitation medicineBasal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.
MedicineA pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients.
Neurology internationalFosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models.
PloS one"Eye of the Tiger" in a Non-Responsive Neuropsychiatric Patient: A Case Report.
Acta medica IranicaLooking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration.
AJNR. American journal of neuroradiologyCurrent state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.
European journal of medical genetics[From the Hallervorden-Spatz eponym to the molecular terminology].
Orvosi hetilap[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration].
Zhonghua er ke za zhi = Chinese journal of pediatricsiPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.
PloS oneClinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Movement disorders : official journal of the Movement Disorder SocietyNovel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration.
SAGE open medical case reportsAtypical pantothenate kinase-associated neurodegeneration with novel genetic mutation.
Neurology IndiaA variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Scientific reportsEpileptic Encephalopathies as Neurodegenerative Disorders.
Advances in neurobiologyTremor-Dominant Pantothenate Kinase-associated Neurodegeneration.
Movement disorders clinical practiceClinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).
Clinical neuroradiologyAtypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature.
Revue neurologiqueOpen-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
Case reports in neurological medicineOn the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Clinical geneticsDiagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
American journal of medical genetics. Part AAssociações
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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.
- The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.
- Rotatory "Head on Bed" Alleviates Pantothenate Kinase-Associated Neurodegeneration.
- Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.
- Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers.
- Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial.
- PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunction.
- Gamifying motor recovery: virtual reality as a therapeutic ally in pantothenate kinase-associated neurodegeneration.
- Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:157850(Orphanet)
- OMIM OMIM:234200(OMIM)
- MONDO:0009319(MONDO)
- GARD:6564(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1436162(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.
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