Doença neurodegenerativa peroxissomal caracterizada por torcicolo espasmódico, tremor distônico da cabeça, tremor intencional, nistagmo, hiposmia e hipogonadismo hipergonadotrófico com azoospermia. Sinais cerebelares leves (tremor intencional do lado esquerdo, equilíbrio e comprometimento da marcha) também são observados. A ressonância magnética (RM) mostra sinais hiperintensos bilaterais no tálamo, lesões semelhantes a borboletas na ponte e lesões na região occipital, enquanto estudos de condução nervosa das extremidades inferiores mostram uma neuropatia predominantemente motora e sensorial leve.
Introdução
O que você precisa saber de cara
Doença neurodegenerativa peroxissomal caracterizada por torcicolo espasmódico, tremor distônico da cabeça, tremor intencional, nistagmo, hiposmia e hipogonadismo hipergonadotrófico com azoospermia. Sinais cerebelares leves (tremor intencional do lado esquerdo, equilíbrio e comprometimento da marcha) também são observados. A ressonância magnética (RM) mostra sinais hiperintensos bilaterais no tálamo, lesões semelhantes a borboletas na ponte e lesões na região occipital, enquanto estudos de condução nervosa das extremidades inferiores mostram uma neuropatia predominantemente motora e sensorial leve.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 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. Padrão de herança: Autosomal recessive.
Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order
NucleusChromosome
Spermatogenic failure 1
An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported.
Variantes genéticas (ClinVar)
50 variantes patogênicas registradas no ClinVar.
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 — Síndrome de leucoencefalopatia-distonia-neuropatia motora
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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We identified a new progeroid syndrome with severe neuropathy and intellectual deficits but its underlying cellular and molecular mechanism is unknown. Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene, which encodes IVNS1ABP, an influenza virus non-structural protein-1 binding protein. To investigate disease mechanisms, we generated isogenic induced pluripotent stem cells (iPSCs) from patient fibroblasts and differentiated them into neural progenitor cells (NPCs). Mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited defective cytokinesis, increased DNA damage, and premature cellular senescence. Consistent with these findings, cerebral organoids showed early differentiation of NPCs into neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin / actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy.
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Medial epicondylitis is an overuse syndrome characterized by degeneration of the flexor-pronator tendons in the elbow, resulting from repetitive forced wrist flexion and forearm pronation. Due to its anatomical location, medial epicondylitis patients may also feature ulnar nerve instability, which can exacerbate symptoms and negatively impact treatment outcomes. Although conservative treatments remain the cornerstone of care for managing medial epicondylitis, the optimal treatment method remains an open question. To evaluate the effects of a combined extracorporeal shockwave therapy (ESWT) protocol on pain, symptom severity, and functional outcomes in medial epicondylitis patients with concomitant ulnar nerve instability. Retrospective case series study with two-year post-treatment follow-up. Center for Rehabilitative Medicine "Sport and Anatomy", University of Pisa. Patients underwent a combined ESWT using the Duolith SD1 ultra device (Storz Medical AG., Switzerland), consisting of sequential focal (0.15-0.20 mJ/mm2, 5-6 Hz, 1,000 shocks) and radial (1.3-1.8 mJ/mm2, 14 Hz, 2,000 shocks) shockwave application per session. Each patient received three to five weekly sessions. Medial epicondylitis patients with concomitant ulnar nerve involvement who underwent a combined ESWT protocol between September 2019 and May 2023. Pain severity and upper limb disability were assessed with the numerical rating scale, the shortened Disabilities of the Arm, Shoulder and Hand questionnaire, and the Ulnar Neuropathy at the Elbow Questionnaire. Patient treatment satisfaction was evaluated with the Roles and Maudsley score. Of the reviewed 15 consecutive medical charts, only three subjects fulfilled the inclusion criteria. Two patients showed a marked decrease in pain and improved functionality scores at all time points; one patient remained unchanged throughout the study; no adverse effects were observed. This retrospective study suggests that ESWT may be efficacious and safe for treating medial epicondylitis patients with concurrent ulnar nerve instability. Prospective studies with a larger sample size are needed to warrant the present results.
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Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is caused by biallelic pathogenic repeat expansions in the RFC1 gene. Chronic cough can precede the neurological features of CANVAS by decades and, in some instances, may be the sole clinical manifestation. However, the prevalence of biallelic RFC1 repeat expansions among patients with unexplained chronic cough (UCC), as well as the diagnostic utility of targeted neurological screening in this setting, remains unclear. In this 6-month pilot study, 13 consecutive patients with UCC underwent a standardized neurological evaluation and screening nerve conduction studies (NCS) during a single clinical visit. All patients were subsequently tested for RFC1 repeat expansions. Those carrying biallelic pathogenic expansions (RFC1+) were further assessed with extended NCS, electrochemical skin conductance (ESC), and thermal quantitative sensory testing (QST). Three patients (23%) were RFC1+. Clinical and demographic features did not significantly differ between RFC1+ and RFC1- groups. All RFC1+ individuals exhibited marked bilateral reduction in radial and sural sensory nerve action potential (SNAP) amplitudes. In contrast, only two RFC1- patients showed reduced sural SNAPs. QST revealed impaired cold detection thresholds with preserved warm detection in all RFC1+ cases, while ESC results were normal. These findings suggest that standardized neurological and electrophysiological assessment can detect subclinical sensory neuropathy in UCC patients lacking overt neurological symptoms, thereby identifying those more likely to carry RFC1 expansions. The observed 23% prevalence supports incorporating RFC1 testing into the diagnostic approach for selected UCC patients, particularly when radial SNAP amplitudes are reduced.
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Long COVID neuropathy: The role of mast cells.
Postacute sequelae of SARS-CoV-2 infection (PASC), or Long COVID, is estimated to affect over 60 million individuals globally, with almost half of COVID-19 survivors experiencing persistent symptoms such as neuropathic pain, fatigue, and autonomic dysfunction. Despite its prevalence, the pathophysiology of PASC remains poorly understood. This narrative review highlights activation of mast cells (MCs), the unique tissue immune cells as a central contributor to neuropathic manifestations in PASC. Mast cell locations near nerves and vessels allows them to regulate neuroimmune and neurovascular processes. Mast cell activation mirrors patterns seen in small-fiber neuropathy and myalgic encephalomyelitis/chronic fatigue syndrome, suggesting a shared immune-mediated etiology. The SARS-CoV-2 spike protein has been shown to activate MCs via angiotensin-converting enzyme 2 and toll-like receptor 4, triggering release of pro-inflammatory and neurotoxic mediators, including interleukin-1β, interleukin-6, tumor necrosis factor alpha, histamine, and tryptase. Such mediators sensitize peripheral nerves, disrupt the blood-brain barrier, and recruit microglia, ultimately contributing to small-fiber injury, neuroinflammation, and dysautonomia. Emerging reports suggest benefit from MC-directed treatments although responses remain variable. Understanding the role of MCs in PASC may offer a plausible mechanism of pathogenesis and guide targeted therapies. Future studies are needed to validate these findings and improve PASC patient outcomes.
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BMJ openPentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.
Nucleic acids researchJugular Paraganglioma Presenting As Isolated Hypoglossal Nerve Palsy: An Anatomical Enigma.
CureusNot All Ascending Weakness and Numbness Is Guillain-Barré Syndrome: A Report of Two Cases of Copper Deficiency Myelopathy.
Cureus20/20 to NLP due to Blowing the Nose and Orbital Emphysema: A Case Report.
Case reports in ophthalmologyAutonomic small fiber involvement in painful long COVID: a histological and clinical study.
Frontiers in human neurosciencePrevalence of Carpal Tunnel Syndrome in Pregnancy and Associated Risk Factors at Ras Al Khaimah, United Arab Emirates.
Annals of African medicineA Case of Amyloid Arthritis With Increased Amyloid Deposition of Both β2-Microglobulin and Transthyretin Before Reinitiating Dialysis Long After Kidney Transplantation.
Nephrology (Carlton, Vic.)Ethanol-precipitated Saccharides: Essential for Danggui Sini decoction against oxaliplatin-induced neurotoxicity.
Journal of ethnopharmacologyA Complex Case of Refractory Exertional Compartment Syndrome With Fibular Neuropathy in an Athlete.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport MedicineClinical Features of Systemic Amyloidosis: A Scoping Review.
Blood advancesNovel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.
European journal of neurologyA structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice.
Frontiers in neurologyThe Relationship Between Emotion Processing and Flexor Afferent Responses in Upper Limbs.
Sensors (Basel, Switzerland)Anti-GQ1b Antibody Syndrome: A Clinician-Oriented Perspective on Diagnostics, Therapy, and Atypical Phenotypes-With an Illustrative 16-Case Institutional Series.
Journal of clinical medicinePigment Dispersion Syndrome and Pigmentary Glaucoma: New Clinical Gradation and Current Therapeutic Strategies.
Journal of clinical medicineThe Spectrum of Motor Disorders in Patients with Chronic Kidney Disease: Pathogenic Mechanisms, Clinical Manifestations, and Therapeutic Strategies.
Journal of clinical medicineCorrelation Between Endocrine and Other Clinical Factors with Peripapillary Retinal Nerve Fiber Layer Thickness After Surgical Treatment of Pediatric Craniopharyngioma.
BiomedicinesHereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
GenesThickening of Dorsal Foot Nerves: A Frequent Sonographic Finding in Asymptomatic Volunteers, Potentially Leading to False Positive Results.
Diagnostics (Basel, Switzerland)RFC1 Repeat Expansion in Chronic Cough: Findings From the Korean Chronic Cough Registry.
Allergy, asthma & immunology researchAdult Botulism of Unknown Source with Post-Toxin Anti-GQ1b Antibodies: Implications for Molecular Mimicry-A Case Report.
Neurology internationalEnd-to-side anterior interosseous nerve transfer augmentation of ulnar nerve function in moderate and severe cubital tunnel syndrome; a randomised controlled trial protocol.
BMC surgeryRecurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.
BMC neurologyGLP-1 Receptor Agonists and Risk of Optic Nerve or Vision-Threatening Events in Patients With Type 2 Diabetes or Cardiometabolic Diseases: A Meta-analysis of Randomized Controlled Trials.
Diabetes careRisk of Psychiatric Disorders Following Carpal Tunnel Syndrome: A Nationwide Cohort Study.
Psychiatry investigationPlasma exchange following immunoglobulins for Guillain-Barré-Syndrome: a persisting problematic practice?
Frontiers in neurologyEffects of ovariectomy of rat on tongue neuropathy: Relevance to burning mouth syndrome.
Journal of dental sciencesOptimal nerve release range and transposition distance in anterior ulnar nerve transposition for cubital tunnel syndrome: an anatomical study.
JSES internationalRisk of new-onset glaucoma in people with carpal tunnel syndrome: a global-federated, multicenter retrospective cohort study.
International journal of medical sciencesPachymeningeal Involvement in POEMS Syndrome: Longitudinal Follow-Up Study and Correlation With Therapeutic Response.
Journal of the peripheral nervous system : JPNSNerve Conduction Studies in Carpal Tunnel Syndrome: Application of Quantitative Methods of Decision Making.
Annals of plastic surgeryShared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
PloS oneCase Report: Guillain-Barré syndrome temporally associated with levofloxacin exposure and improvement following efgartigimod treatment.
Frontiers in immunologyMinimally invasive tubular retractor implantation of a paddle electrode stimulator for the trigeminal nucleus caudalis: illustrative case.
Journal of neurosurgery. Case lessonsPatterns of Seasonality and Subtype-Linked Outcomes of Pediatric Guillain-Barré Syndrome ICU Admissions: A 10-Year Audit from Southern India.
Indian pediatricsLeber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report.
Case reports in ophthalmologyReverse End-to-Side Abductor Digiti Minimi-to-Recurrent Motor Branch Nerve Transfer for Severe Carpal Tunnel Syndrome: Report of Three Cases.
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JAMAEvolution of Carpal Tunnel Syndrome Treatment: A Narrative Review.
NeuroSciCase Report: POEMS syndrome secondary to multiple solitary plasmacytomas complicated by hypertriglyceridemia.
Frontiers in medicineNeurological Complications Associated With COVID-19 Compared to Other Viral Infections: A Systematic Review of Current Evidence.
CureusPharmacovigilance study on neurological adverse reactions of proteasome inhibitors in the FDA adverse event reporting system.
Frontiers in pharmacologyNeuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.
American journal of medical genetics. Part AAllgrove syndrome with early neurodegeneration in a child: A case report from Syria.
MedicineClinical characteristics of peripheral neuropathy and risk factors in rheumatoid arthritis patients: A retrospective study.
MedicineCrocodile tear syndrome: to eat and cry for more.
Practical neurologyImpact of Diabetic Peripheral Neuropathy on Corneal Sensitivity and Ocular Surface.
Ophthalmic researchHigh prevalence of treatable transthyretin cardiac amyloidosis in cardioembolic stroke: the first systematic cohort study.
Journal of neurologyExpanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.
Lancet regional health. AmericasAssociações
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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.
- IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
- Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.
- Targeted neurological screening for RFC1-related disease in unexplained chronic cough.
- Long-term relief of refractory trigeminal neuropathy using high-frequency spinal cord stimulation at the cervicomedullary junction: a 6-year follow-up case report.
- Long COVID neuropathy: The role of mast cells.
- Unveiling the hidden link: diabetes mellitus as a catalyst for orbital apex syndrome.
- Long-Term Outcomes Associated With Posterior Fossa Syndrome in Survivors of Childhood Medulloblastoma.
- Pediatric Giant-Cell Tumor of Bone With Secondary Aneurysmal Bone Cyst Causing Orbital Apex Syndrome.
- Idiopathic First Bite Syndrome Associated With Diabetic Autonomic Neuropathy.
- Management of Haws Syndrome in Cats With Gastrointestinal Diet: A Case Series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:163684(Orphanet)
- OMIM OMIM:613724(OMIM)
- MONDO:0013391(MONDO)
- Distonia e Espasticidade(PCDT · Ministério da Saúde)
- GARD:12471(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345838(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