Raras
Buscar doenças, sintomas, genes...
Adrenomieloneuropatia
ORPHA:139399CID-10 · E71.3CID-11 · 5C57.1DOENÇA RARA

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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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.

Pesquisas ativas
5 ensaios
74 total registrados no ClinicalTrials.gov
Publicações científicas
511 artigos
Último publicado: 2026 Mar
Medicamentos
1 registrados
PIOGLITAZONE

Tem tratamento?

1 medicamento registrado
Ver detalhes, fases e interações →
PIOGLITAZONE
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E71.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (7)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)nutritional
0301070040
Atendimento em reabilitação — doenças raras
+1 outros procedimentos
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
9 sintomas
🫘
Rins
6 sintomas
🧬
Pele e cabelo
4 sintomas
🫃
Digestivo
2 sintomas
💪
Músculos
2 sintomas

+ 26 sintomas em outras categorias

Características mais comuns

90%prev.
Degeneração axonal periférica
Muito frequente (99-80%)
90%prev.
Anormalidade da medula espinhal
Muito frequente (99-80%)
90%prev.
Comprometimento sensorial distal
Muito frequente (99-80%)
90%prev.
Concentração anormal de ácidos graxos circulantes
Muito frequente (99-80%)
90%prev.
Anormalidade da eletrofisiologia do sistema nervoso periférico
Muito frequente (99-80%)
90%prev.
Continência prejudicada
Muito frequente (99-80%)
49sintomas
Muito frequente (9)
Frequente (26)
Ocasional (14)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Degeneração axonal periféricaPeripheral axonal degeneration
Muito frequente (99-80%)90%
Anormalidade da medula espinhalAbnormality of the spinal cord
Muito frequente (99-80%)90%
Comprometimento sensorial distalDistal sensory impairment
Muito frequente (99-80%)90%
Concentração anormal de ácidos graxos circulantesAbnormal circulating fatty-acid concentration
Muito frequente (99-80%)90%
Anormalidade da eletrofisiologia do sistema nervoso periféricoAbnormality of peripheral nervous system electrophysiology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico511PubMed
Últimos 10 anos153publicações
Pico202118 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição.

X-linked recessive
ABCD1ATP-binding cassette sub-family D member 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Peroxisome membraneMitochondrion membraneLysosome membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (5)
ABC transporters in lipid homeostasisBeta-oxidation of very long chain fatty acidsalpha-linolenic acid (ALA) metabolismLinoleic acid (LA) metabolismClass I peroxisomal membrane protein import
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (5)
adrenoleukodystrophyadrenomyeloneuropathyCADDSX-linked cerebral adrenoleukodystrophy
HGNC:61UniProt:P33897

Medicamentos e terapias

PIOGLITAZONEPhase 2

Mecanismo: Peroxisome proliferator-activated receptor gamma agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

945 variantes patogênicas registradas no ClinVar.

🧬 ABCD1: NM_000033.4(ABCD1):c.1976A>G (p.His659Arg) ()
🧬 ABCD1: NM_000033.4(ABCD1):c.1640A>T (p.Tyr547Phe) ()
🧬 ABCD1: NM_000033.4(ABCD1):c.509C>A (p.Ala170Asp) ()
🧬 ABCD1: NM_000033.4(ABCD1):c.487C>A (p.Arg163Ser) ()
🧬 ABCD1: NM_000033.4(ABCD1):c.433A>C (p.Thr145Pro) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 22
1Fase 11
·Pré-clínico6
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 10 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Adrenomieloneuropatia

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

5 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

74 ensaios clínicos encontrados, 5 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
154 papers (10 anos)
#1

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.

Journal of neurology, neurosurgery, and psychiatry2026 Feb 10

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.

#2

Living with adrenoleukodystrophy: adult patient and caregiver perspectives.

Orphanet journal of rare diseases2026 Jan 08

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.

#3

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

The Journal of international medical research2026 Mar

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.

#4

Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.

Pain medicine case reports2026 Feb

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.

#5

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration2026 Feb

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

Ver todas no PubMed

📚 EuropePMC212 artigos no totalmostrando 153

2026

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

The Journal of international medical research
2026

Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.

Pain medicine case reports
2026

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.

Journal of neurology, neurosurgery, and psychiatry
2025

Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.

Cureus
2026

Living with adrenoleukodystrophy: adult patient and caregiver perspectives.

Orphanet journal of rare diseases
2025

Adult onset cerebral adrenoleukodystrophy: report of an atypical case.

Acta neurologica Belgica
2025

Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.

Molecular genetics and metabolism
2025

An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy.

Journal of inherited metabolic disease
2025

Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.

Brain &amp; development
2025

Hypogonadism in adult males with adrenoleukodystrophy.

Annales d'endocrinologie
2025

Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.

The Indian journal of medical research
2025

Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.

BMC neurology
2026

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2025

Peripheral nerve enlargement and hyperechogenicity in patients with X-linked adrenoleukodystrophy using high-resolution ultrasound.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives.

Biomedicines
2025

Nervonic acid, a long chain monounsaturated fatty acid, improves mitochondrial function in adrenomyeloneuropathy fibroblasts.

British journal of pharmacology
2025

Home-Based Rehabilitation With Frenkel's Exercises for Adrenomyeloneuropathy: A Case Report.

Cureus
2025

Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Clinical genetics
2025

In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy.

Human genome variation
2025

Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes.

International journal of molecular sciences
2025

Intracisternal AAV9-MAG-hABCD1 Vector Reverses Motor Deficits in Adult Adrenomyeloneuropathy Mice.

Human gene therapy
2024

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.

Molecular therapy. Methods &amp; clinical development
2024

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification.

Frontiers in genetics
2024

A spectrum of cognitive-behavioral-movement disorders in adrenoleukodystrophy: A case series from a tertiary care centre in the eastern part of India.

Qatar medical journal
2024

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Neurology. Genetics
2024

Adrenal insufficiency and the use of mineralocorticoid treatment in male patients with adrenoleukodystrophy; a retrospective analysis of an institutional database.

BMC endocrine disorders
2023

[Adrenal insufficiency as part of X-linked adrenoleukodystrophy].

Problemy endokrinologii
2024

Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.

Orphanet journal of rare diseases
2024

Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.

Degenerative neurological and neuromuscular disease
2024

Generating human AMN and cALD iPSC-derived astrocytes with potential for modeling X-linked adrenoleukodystrophy phenotypes.

bioRxiv : the preprint server for biology
2024

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.

Journal of inherited metabolic disease
2024

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.

Medicine
2024

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology.

Orphanet journal of rare diseases
2024

Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).

Orphanet journal of rare diseases
2024

Intrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy.

Frontiers in neurology
2024

Novel 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 reports
2024

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.

Medicine
2023

Considering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report.

Free neuropathology
2023

Adrenomyeloneuropathy (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 neuropathology
2023

IPSC-Derived Astrocytes to Model Neuroinflammatory and Metabolic Responses in X-linked Adrenoleukodystrophy.

Journal of biotechnology and biomedicine
2024

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

Annals of neurology
2023

X-linked adrenoleukodystrophy and primary adrenal insufficiency.

Frontiers in endocrinology
2023

Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy.

The journal of medical investigation : JMI
2023

A historical look using virtual microscopy: the first case report of adrenomyeloneuropathy (AMN).

Free neuropathology
2023

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.

EBioMedicine
2024

Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.

Internal medicine (Tokyo, Japan)
2023

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.

Endocrinologia, diabetes y nutricion
2023

Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.

Annals of clinical and translational neurology
2023

Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy.

Cureus
2023

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

International journal of molecular sciences
2023

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.

Frontiers in neurology
2022

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.

Frontiers in neurology
2023

Safety 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. Neurology
2023

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.

Journal of inherited metabolic disease
2022

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity.

JIMD reports
2023

Targeted 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 NeuroTherapeutics
2022

Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.

Methods in molecular biology (Clifton, N.J.)
2022

Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.

Neurology India
2022

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.

Molecular genetics and metabolism reports
2022

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.

The application of clinical genetics
2022

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.

Cells
2022

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

International journal of neonatal screening
2022

Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy.

Journal of inherited metabolic disease
2022

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

International journal of endocrinology
2022

Restless Legs Syndrome in X-linked adrenoleukodystrophy.

Sleep medicine
2022

Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy.

Human gene therapy
2022

Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series.

JIMD reports
2022

Typical 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 Neurophysiology
2021

Traditional Chinese medicine for gait disturbance in adrenoleukodystrophy: A case report and review of literature.

World journal of clinical cases
2022

Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.

Journal of inherited metabolic disease
2021

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.

Parkinsonism &amp; related disorders
2021

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2021

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.

Psychiatric genetics
2021

[X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice].

Praxis
2021

Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.

Annals of neurology
2021

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.

Science translational medicine
2021

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Genes
2021

Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.

Journal of cellular biochemistry
2021

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Neuropsychiatric disease and treatment
2021

Positive Predictive Value of Myelin Oligodendrocyte Glycoprotein Autoantibody Testing.

JAMA neurology
2021

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.

Nature communications
2021

Pain Study in X-Linked Adrenoleukodystrophy in Males and Females.

Pain and therapy
2021

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy.

NeuroImage. Clinical
2021

Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.

Orphanet journal of rare diseases
2021

X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.

Clinica chimica acta; international journal of clinical chemistry
2020

Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.

World journal of biological chemistry
2020

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder.

Journal of general and family medicine
2021

Optical 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 Neurophysiology
2020

High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.

Brain pathology (Zurich, Switzerland)
2020

Unusual early-onset and severe adrenomyeloneuropathy in women.

European journal of neurology
2020

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.

Endocrinology and metabolism (Seoul, Korea)
2020

Adrenomyeloneuropathy Masquerading as Chronic Myelitis.

JAMA neurology
2020

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Case reports in genetics
2021

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.

Genes &amp; diseases
2020

Adrenomyeloneuropathy Presenting with Spastic Gait.

PM &amp; R : the journal of injury, function, and rehabilitation
2020

Anesthetic management of pediatric patients diagnosed with X-linked adrenoleukodystrophy: A single-center experience.

Paediatric anaesthesia
2019

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

The neurologist
2019

A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.

Brain and behavior
2019

Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.

BMC neurology
2019

Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy.

Neurology
2019

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2019

The Effect of Repetitive Transcranial Magnetic Stimulation on Motor Symptoms in Hereditary Spastic Paraplegia.

Neural plasticity
2019

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2019

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.

European journal of neurology
2019

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.

Frontiers in neurology
2019

Late onset adrenoleukodystrophy: A review related clinical case report.

eNeurologicalSci
2019

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.

Neuromuscular disorders : NMD
2019

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging.

Radiology case reports
2018

Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.

Medicine
2019

Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy.

Biochemical and biophysical research communications
2018

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Orphanet journal of rare diseases
2019

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.

Human gene therapy
2018

Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy.

Annals of neurology
2018

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neuro-degenerative diseases
2018

Rare variability in adrenoleukodystrophy: a case report.

Journal of medical case reports
2018

A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia.

Frontiers in neurology
2018

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2017

A Somewhat Bizarre Case of Graves Disease Due to Vitamin Treatment.

Journal of the Endocrine Society
2017

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Duodecim; laaketieteellinen aikakauskirja
2018

Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.

Practical neurology
2017

Management of X-linked adrenoleukodystrophy in Morocco: actual situation.

BMC research notes
2017

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).

Stem cell research
2017

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.

Annals of neurology
2017

Highly 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 sciences
2017

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Molecular genetics and metabolism
2017

Application 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 reports
2017

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.

Biochimica et biophysica acta. Molecular basis of disease
2017

[Compassionate use of cannabidiol in spray form for the treatment of spastic paraparesis in a patient with adrenomyeloneuropathy].

Revista de neurologia
2017

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.

PloS one
2017

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy.

eLife
2017

A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.

Neuro endocrinology letters
2017

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.

Brain : a journal of neurology
2017

Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.

JAMA neurology
2017

Long-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 Society
2016

An 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 research
2016

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

Biochimica et biophysica acta
2016

Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.

Journal of the neurological sciences
2016

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy.

Endocrinology and metabolism clinics of North America
2016

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.

Brain : a journal of neurology
2016

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.

Iranian journal of child neurology
2016

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Clinical case reports
2016

Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase.

Journal of neurochemistry
2017

MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.

Molecular neurobiology
2015

Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy.

PloS one
2015

Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.

Human molecular genetics
2015

Chemical Synthesis of a Very Long-Chain Fatty Acid, Hexacosanoic Acid (C26:0), and the Ceramide Containing Hexacosanoic Acid.

Journal of nutritional science and vitaminology
2015

A 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 sciences
2015

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

The application of clinical genetics
2015

The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement.

BMJ case reports
2015

Loss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.

Mediators of inflammation
2015

Romiplostim mitigates dose-limiting thrombocytopenia of erucic acid for adrenomyeloneuropathy.

British journal of haematology
2015

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.

JIMD reports
2015

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Acta neuropathologica
Ver todos os 212 no EuropePMC

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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.

  1. Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
    Journal of neurology, neurosurgery, and psychiatry· 2026· PMID 41667276mais citado
  2. Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
    Orphanet journal of rare diseases· 2026· PMID 41508113mais citado
  3. X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
    The Journal of international medical research· 2026· PMID 41871978mais citado
  4. Spinal Cord Stimulation for Chronic Neuropathic Pain in Adrenomyeloneuropathy: A Case Report.
    Pain medicine case reports· 2026· PMID 41779991mais citado
  5. Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
    Amyotrophic lateral sclerosis &amp; frontotemporal degeneration· 2026· PMID 40961460mais citado
  6. Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis.
    Cureus· 2025· PMID 41552192recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139399(Orphanet)
  2. MONDO:0015339(MONDO)
  3. GARD:10614(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Adrenomieloneuropatia
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Adrenomieloneuropatia

ORPHA:139399 · MONDO:0015339
CID-10
E71.3 · Distúrbios do metabolismo de ácidos graxos
CID-11
Ensaios
5 ativos
Medicamentos
1 registrados
Início
Adult
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C1527231
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