Forma adulta da doença peroxissomal adrenoleucodistrofia ligada ao X (X-ALD), caracterizada por paraparesia espástica e frequentemente associada à insuficiência adrenal periférica em homens. Tanto homens como mulheres podem ser afetados pela AMN.
Introdução
O que você precisa saber de cara
Forma adulta da doença peroxissomal adrenoleucodistrofia ligada ao X (X-ALD), caracterizada por paraparesia espástica e frequentemente associada à insuficiência adrenal periférica em homens. Tanto homens como mulheres podem ser afetados pela AMN.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 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
1 gene identificado com associação a esta condição.
ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into pero
Peroxisome membraneMitochondrion membraneLysosome membraneEndoplasmic reticulum membrane
Adrenoleukodystrophy
A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
Medicamentos e terapias
Mecanismo: Peroxisome proliferator-activated receptor gamma agonist
Variantes genéticas (ClinVar)
945 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Adrenomieloneuropatia
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
74 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
Adult adrenoleukodystrophy is a rare X linked disorder with heterogeneous phenotypes, complicating prognosis and trial design. We characterised phenotype and natural history in a large single-centre nationwide cohort and contextualised findings with prior reports. We performed a combined retrospective-prospective observational study of adults (≥18 years) with confirmed ABCD1 variants evaluated at Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (January 2004-June 2023), with reassessments between July and December 2023. Clinical, genetic, biochemical, MRI and neurophysiological data were analysed. The cohort comprised 140 patients (64 males, 76 females) from 58 families, carrying 50 ABCD1 variants, including 11 novel mutations. Adrenomyeloneuropathy (AMN) predominated in males, with low mortality (<10%) and rare cerebral progression (7%) across 18 years, suggesting protective factors. An intermediate phenotype, adrenoleukomyeloneuropathy (ALMN), showed earlier onset, demyelinating MRI changes without cerebral symptoms at baseline and higher mortality than AMN (HR 4.75, 95% CI 1.60 to 14.11). In females, symptom prevalence increases with age, affecting 57% over 60, although only 37% required walking aids. Males had higher very long-chain fatty acid (VLCFA) levels than females, but intrasex correlations with phenotype were absent. Brainstem auditory evoked potentials (BAEPs) were consistently abnormal, whereas nerve conduction studies were abnormal in ~half of male patients (less often in females). Adult adrenoleukodystrophy comprises distinct phenotypes with variable prognosis. Recognition of ALMN as an intermediate form and the low cerebral progression rate in Italian AMN refine disease classification. Sex-related VLCFA differences may influence severity, although standard assays lack sensitivity. Neurophysiological testing, particularly BAEPs, can support differential diagnosis in patients with hereditary spastic paraplegias. NCT04880356.
Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting involving patients and caregivers, Food and Drug Administration representatives, and physicians to hear the patient’s voice regarding living with adult manifestations of ALD. Adult patients with ALD and/or caregivers were invited to the EL-PFDD to discuss the impact of living with ALD and their desires for future treatment/management. On July 22, 2022, the virtual EL-PFDD meeting took place with 254 individuals, including 153 adult patients with ALD and/or caregivers. Men and women with ALD suffer from many health conditions with top concerns being balance issues (81%), altered gait (67%), and spasticity (67%). Disease impact on daily activities was significant; 69% had issues with walking, playing sports (45%), and sleeping (41%). Overall, 88% of respondents feared their condition worsening, being unable to walk (61%), and developing cerebral ALD (39%). There are no disease-specific treatments for adults; patients used various medications and physical therapies for symptom management, with either ‘very little’ (39% respondents) or ‘somewhat’ (44% respondents) of a response; 10% received no relief with treatments. In the future, patients want to be involved in treatment development and clinical trials. ALD is a progressive disease that can be life-limiting. There is an urgent need to develop treatments that will either slow, halt, or cure adult manifestations of ALD, and men and women are eager to be involved in studies. The online version contains supplementary material available at 10.1186/s13023-025-04130-3.
X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
X-linked adrenoleukodystrophy is a rare peroxisomal disorder caused by mutations in ABCD1, thereby resulting in impaired β-oxidation of very long-chain fatty acids. Its adult-onset form, adrenomyeloneuropathy, typically presents as progressive spastic paraparesis that mimics hereditary spastic paraplegia. Brain and spinal magnetic resonance imaging findings are often unremarkable, contributing to diagnostic delays and misdiagnosis. Herein, we report the case of a 60-year-old woman who presented with a 10-year history of progressive lower limb stiffness, weakness, and gait disturbance. She was initially diagnosed with hereditary spastic paraplegia and sought a second opinion. Her family history was remarkable for her father, who experienced a chronic gait disturbance of unknown etiology but never received a formal diagnosis. Neurological examination revealed mild weakness and spasticity in the bilateral lower extremities accompanied by bladder dysfunction, whereas magnetic resonance imaging of the brain and spine was normal. Given the relevant family history and presence of urinary symptoms, metabolic testing was performed. Elevated plasma very long-chain fatty acid levels and a pathogenic variant in ABCD1 confirmed the diagnosis of X-linked adrenoleukodystrophy presenting as adrenomyeloneuropathy. This case underscores the need to consider X-linked adrenoleukodystrophy in patients with progressive spastic paraparesis, even in the absence of imaging abnormalities.
Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.
Neuropathic pain in adrenomyeloneuropathy (AMN) is a poorly understood phenomenon, with no consensus on treatment options. We report for the first time the successful treatment of medication-refractory neuropathic pain in AMN with thoracic spinal cord stimulation (SCS). A 33-year-old man with AMN presented to clinic with a 10-year history of progressive bilateral distal leg pain and numbness, and a diagnosis by electromyoneurography of demyelinating polyneuropathy, refractory to best medical therapy. After a successful percutaneous trial, he underwent insertion of a paddle system spanning T10-T12. At 3 and 12 months, validated questionnaires revealed improved pain and psychosocial functioning. We therefore advocate for prompt referral to pain specialists for further workup and management, including consideration of SCS.
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
Neurodegenerative upper motor neuron (UMN) syndromes ranging from primary lateral sclerosis (PLS) to pure and complicated types of hereditary spastic paraplegia (HSP) remain challenging to differentiate clinically, especially in the early stages of disease. As they share the hallmark of spastic paraparesis, easily accessible biomarkers are warranted to facilitate an early diagnosis. We examined serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) as diagnostic biomarkers to differentiate PLS from HSP, represented by two paradigmatic subtypes: SPG4, the most common type of pure HSP, and adrenomyeloneuropathy (AMN), a common complicated form of HSP. In addition to sNfL and sGFAP raw levels, we used age-adjusted z-scores to account for age-related biomarker level increases. In our cohort of 18 PLS patients, 18 AMN patients, 25 SPG4 patients and 60 controls, sNfL z-scores were higher in PLS than in SPG4 (p < 0.001), AMN (p = 0.03), and controls (p < 0.001). Furthermore, sNfL z-scores allowed distinguishing PLS from SPG4 (AUC 0.82, 95% CI 0.67-0.98) and-slightly less accurate-from AMN (AUC 0.77, 95% CI 0.60-0.95). sGFAP z-scores did not differ significantly between groups. Our study suggests that serum NfL, but not GFAP, is a potential diagnostic biomarker in degenerative UMN diseases and may help to differentiate PLS from pure and complicated forms of HSP. Our results indicate that axonal degeneration-the source of NfL release-is predominant over astrocytic pathology-the source of GFAP release-in PLS, AMN, and SPG4.
Publicações recentes
X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.
Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
📚 EuropePMC212 artigos no totalmostrando 153
X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
The Journal of international medical researchSpinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.
Pain medicine case reportsAdrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
Journal of neurology, neurosurgery, and psychiatryLate-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.
CureusLiving with adrenoleukodystrophy: adult patient and caregiver perspectives.
Orphanet journal of rare diseasesAdult onset cerebral adrenoleukodystrophy: report of an atypical case.
Acta neurologica BelgicaNationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Molecular genetics and metabolismAn Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy.
Journal of inherited metabolic diseaseAdrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.
Brain & developmentHypogonadism in adult males with adrenoleukodystrophy.
Annales d'endocrinologieClinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.
The Indian journal of medical researchClinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.
BMC neurologySerum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
Amyotrophic lateral sclerosis & frontotemporal degenerationPeripheral nerve enlargement and hyperechogenicity in patients with X-linked adrenoleukodystrophy using high-resolution ultrasound.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyGene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives.
BiomedicinesNervonic acid, a long chain monounsaturated fatty acid, improves mitochondrial function in adrenomyeloneuropathy fibroblasts.
British journal of pharmacologyHome-Based Rehabilitation With Frenkel's Exercises for Adrenomyeloneuropathy: A Case Report.
CureusNovel ABCD1 Variants in X-Linked Adrenoleukodystrophy.
Clinical geneticsIn-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.
Human genome variationGeneration and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.
International journal of molecular sciencesIntracisternal AAV9-MAG-hABCD1 Vector Reverses Motor Deficits in Adult Adrenomyeloneuropathy Mice.
Human gene therapyAn in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
Molecular therapy. Methods & clinical developmentA case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.
Frontiers in geneticsA spectrum of cognitive-behavioral-movement disorders in adrenoleukodystrophy: A case series from a tertiary care centre in the eastern part of India.
Qatar medical journalPractical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
Neurology. GeneticsAdrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database.
BMC endocrine disorders[Adrenal insufficiency as part of X-linked adrenoleukodystrophy].
Problemy endokrinologiiBurden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.
Orphanet journal of rare diseasesChildhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.
Degenerative neurological and neuromuscular diseaseGenerating human AMN and cALD iPSC-derived astrocytes with potential for modeling X-linked adrenoleukodystrophy phenotypes.
bioRxiv : the preprint server for biologyInternational validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.
Journal of inherited metabolic diseaseA novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
MedicineThe pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology.
Orphanet journal of rare diseasesPatient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).
Orphanet journal of rare diseasesIntrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy.
Frontiers in neurologyNovel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report.
Journal of medical case reportsAdrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.
MedicineConsidering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report.
Free neuropathologyAdrenomyeloneuropathy (AMN): myelinopathy or axonopathy?: Comment on: Considering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report by E. Salsano and C. Benzoni.
Free neuropathologyIPSC-Derived Astrocytes to Model Neuroinflammatory and Metabolic Responses in X-linked Adrenoleukodystrophy.
Journal of biotechnology and biomedicineRole of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
Annals of neurologyX-linked adrenoleukodystrophy and primary adrenal insufficiency.
Frontiers in endocrinologyMolecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy.
The journal of medical investigation : JMIA historical look using virtual microscopy: the first case report of adrenomyeloneuropathy (AMN).
Free neuropathologyBiomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
EBioMedicineAdrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.
Internal medicine (Tokyo, Japan)Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.
Endocrinologia, diabetes y nutricionNeurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.
Annals of clinical and translational neurologySevere Pressure Ulcers in Two Patients With Adrenoleukodystrophy.
CureusTwo Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
International journal of molecular sciencesNovel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.
Frontiers in neurologyNewborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Frontiers in neurologySafety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
The Lancet. NeurologyNeurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Journal of inherited metabolic diseaseMicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity.
JIMD reportsTargeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsQuantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.
Methods in molecular biology (Clifton, N.J.)Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.
Neurology IndiaHigh incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.
Molecular genetics and metabolism reportsABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.
The application of clinical geneticsPeroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
CellsNewborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
International journal of neonatal screeningTherapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy.
Journal of inherited metabolic diseaseIdentification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
International journal of endocrinologyRestless Legs Syndrome in X-linked adrenoleukodystrophy.
Sleep medicineLong-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy.
Human gene therapyFunctional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series.
JIMD reportsTypical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTraditional Chinese medicine for gait disturbance in adrenoleukodystrophy: A case report and review of literature.
World journal of clinical casesSensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.
Journal of inherited metabolic diseaseInvestigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Parkinsonism & related disordersManagement of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieDiverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.
Psychiatric genetics[X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice].
PraxisCognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.
Annals of neurologyThe brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.
Science translational medicineA Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
GenesDrug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
Journal of cellular biochemistryLate-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.
Neuropsychiatric disease and treatmentPositive Predictive Value of Myelin Oligodendrocyte Glycoprotein Autoantibody Testing.
JAMA neurologyNeurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Nature communicationsPain Study in X-Linked Adrenoleukodystrophy in Males and Females.
Pain and therapyMultiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy.
NeuroImage. ClinicalBeyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.
Orphanet journal of rare diseasesX-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.
Clinica chimica acta; international journal of clinical chemistryDeciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.
World journal of biological chemistryA case of female adrenoleukodystrophy carrier with insidious neurogenic bladder.
Journal of general and family medicineOptical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHigh-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.
Brain pathology (Zurich, Switzerland)Unusual early-onset and severe adrenomyeloneuropathy in women.
European journal of neurologyNovel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.
Endocrinology and metabolism (Seoul, Korea)Adrenomyeloneuropathy Masquerading as Chronic Myelitis.
JAMA neurologyCharacterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
Case reports in geneticsA novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Genes & diseasesAdrenomyeloneuropathy Presenting with Spastic Gait.
PM & R : the journal of injury, function, and rehabilitationAnesthetic management of pediatric patients diagnosed with X-linked adrenoleukodystrophy: A single-center experience.
Paediatric anaesthesiaLeukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?
The neurologistA novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.
Brain and behaviorClinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
BMC neurologyPearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy.
NeurologyX-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloThe Effect of Repetitive Transcranial Magnetic Stimulation on Motor Symptoms in Hereditary Spastic Paraplegia.
Neural plasticityBiomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsLongitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.
European journal of neurologyBroadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.
Frontiers in neurologyLate onset adrenoleukodystrophy: A review related clinical case report.
eNeurologicalSciTargeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.
Neuromuscular disorders : NMDLate adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.
Radiology case reportsCase report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
MedicineIntegrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy.
Biochemical and biophysical research communicationsNerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.
Orphanet journal of rare diseasesIntrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.
Human gene therapyDendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy.
Annals of neurologyNovel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.
Neuro-degenerative diseasesRare variability in adrenoleukodystrophy: a case report.
Journal of medical case reportsA Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia.
Frontiers in neurologyEvaluation of afferent pain pathways in adrenomyeloneuropathic patients.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyA Somewhat Bizarre Case of Graves Disease Due to Vitamin Treatment.
Journal of the Endocrine SocietyAdrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.
Duodecim; laaketieteellinen aikakauskirjaPsychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.
Practical neurologyManagement of X-linked adrenoleukodystrophy in Morocco: actual situation.
BMC research notesGeneration of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).
Stem cell researchMicroglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Annals of neurologyHighly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy.
Journal of the neurological sciencesX-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Molecular genetics and metabolismApplication of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy.
Molecular genetics and metabolism reportsLipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
Biochimica et biophysica acta. Molecular basis of disease[Compassionate use of cannabidiol in spray form for the treatment of spastic paraparesis in a patient with adrenomyeloneuropathy].
Revista de neurologiaUnmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.
PloS onePeroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy.
eLifeA first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.
Neuro endocrinology lettersLong-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.
Brain : a journal of neurologyAntioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
JAMA neurologyLong-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyAn ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.
Journal of molecular and genetic medicine : an international journal of biomedical researchCYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Biochimica et biophysica actaOligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.
Journal of the neurological sciencesEndocrine Dysfunction in X-Linked Adrenoleukodystrophy.
Endocrinology and metabolism clinics of North AmericaQuantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
Brain : a journal of neurologyThe Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.
Iranian journal of child neurologyMild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.
Clinical case reportsMetformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase.
Journal of neurochemistryMicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.
Molecular neurobiologyFunctional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy.
PloS oneAltered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.
Human molecular geneticsChemical Synthesis of a Very Long-Chain Fatty Acid, Hexacosanoic Acid (C26:0), and the Ceramide Containing Hexacosanoic Acid.
Journal of nutritional science and vitaminologyA novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.
Journal of the neurological sciencesThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
The application of clinical geneticsThe difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.
BMJ case reportsLoss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.
Mediators of inflammationRomiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy.
British journal of haematologyBladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.
JIMD reportsAutophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
Acta neuropathologicaAssociações
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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.
- Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
- Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
- X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
- Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.
- Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
- Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139399(Orphanet)
- MONDO:0015339(MONDO)
- GARD:10614(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3310134(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
