Raras
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Síndrome de ataxia-degeneração tapetoretiniana
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Introdução

O que você precisa saber de cara

📋

Síndrome de Kearns–Sayre (SKS), transtorno oculocraniossomático ou transtorno neuromuscular oculocraniossomático com fibras vermelhas irregulares, é uma miopatia mitocondrial com início típico antes dos 20 anos de idade. A SKS é uma variante sindrômica mais grave da oftalmoplegia externa progressiva crônica, uma síndrome caracterizada por envolvimento isolado dos músculos que controlam o movimento da pálpebra e do olho. Isso resulta em ptose e oftalmoplegia, respectivamente. A SKS envolve uma combinação da já descrita oftalmoplegia externa progressiva crônica, bem como retinopatia pigmentar em ambos os olhos e anormalidades da condução cardíaca. Outros sintomas podem incluir ataxia cerebelar, fraqueza muscular proximal, surdez, diabetes mellitus, deficiência de hormônio do crescimento, hipoparatireoidismo e outras endocrinopatias.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adolescent
+ childhood, infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G11.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
4 sintomas
👁️
Olhos
3 sintomas
💪
Músculos
1 sintomas

+ 1 sintomas em outras categorias

Características mais comuns

17%prev.
Comprometimento cognitivo
Ocasional (29-5%)
17%prev.
Distrofia de cones e bastonetes
Ocasional (29-5%)
17%prev.
Ataxia
Ocasional (29-5%)
17%prev.
Hipotonia
Ocasional (29-5%)
17%prev.
Distúrbio da marcha
Ocasional (29-5%)
17%prev.
Aplasia/Hipoplasia do cerebelo
Ocasional (29-5%)
9sintomas
Ocasional (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.

Comprometimento cognitivoCognitive impairment
Ocasional (29-5%)17%
Distrofia de cones e bastonetesRod-cone dystrophy
Ocasional (29-5%)17%
Ataxia
Ocasional (29-5%)17%
HipotoniaHypotonia
Ocasional (29-5%)17%
Distúrbio da marchaGait disturbance
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026156 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro ensaio clínico
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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.
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de ataxia-degeneração tapetoretiniana

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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

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

Outros ensaios clínicos

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
0 papers (10 anos)
#1

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.

#2

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports2026 Mar 17

Adenosine-to-inosine RNA editing by ADAR1 prevents aberrant innate immunity activation by modifying endogenous double-stranded RNA. Mice carrying a left-handed double-stranded RNA (Z-RNA) binding-deficient mutation develop Aicardi-Goutières syndrome (AGS)-like encephalopathy, characterized by ventricular enlargement, gliosis, calcification, and white matter degeneration with a type I interferon (IFN) signature. However, the mechanisms underlying encephalopathy development remain unknown. Here, we show that pathology was most severe in periventricular regions where IFN-stimulated gene (ISG) expression was elevated and ependymal cells were lost, accompanied by higher IFN-α levels in cerebrospinal fluid than in sera. Blocking type I IFN signaling fully reversed these abnormalities, which was not achieved by deleting downstream PKR or ZBP1. Microglial elimination partially alleviated the encephalopathy without suppressing ISGs. In contrast, neuron- or astrocyte-specific ADAR1 dysfunction evoked robust ISG expression and recapitulated AGS-like encephalopathy, with astrocytic dysfunction causing particularly severe effects. These findings identify aberrant multicellular IFN signaling as the central driver of AGS-like encephalopathy.

#3

Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.

Frontiers in rehabilitation sciences2026

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.

#4

Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.

Frontiers in neuroscience2026

Frontotemporal lobar degeneration (FTLD) encompasses heterogeneous clinical syndrome within the frontotemporal spectrum, where clinicopathological associations may be misleading. This case series illustrates clinicopathological variability and mismatches. A retrospective case series was conducted within the brain donation program at the Golgi Cenci Foundation. Cases presenting at onset with a frontotemporal-spectrum phenotype, longitudinal clinical data, and post-mortem neuropathological characterization were included. Five cases (mean age at onset 65.4 years) were clinically diagnosed with major neurocognitive disorder due to frontotemporal dementia (FTD). Neuropathological examination revealed clinicopathological heterogeneity: two cases showed FTLD-TDP-A associated with GRN mutations, including a classic case and one with posterior (parieto-occipital) involvement; one non-fluent variant primary progressive aphasia (nfvPPA) case demonstrated FTLD-TDP-A with multiple co-pathologies; one semantic-variant-like case was driven by high Alzheimer's disease neuropathological changes; and one behavioral variant FTD-like case corresponded to frontal-variant Alzheimer's disease (fvAD) with extensive mixed pathology, including Lewy body disease, LATE-NC, and vascular pathology. Findings indicate that clinical phenotypes are more influenced by the anatomical distribution of pathology than by the specific molecular substrate. Frequent coexisting proteinopathies and asymmetric involvement contribute to phenotypic variability, reinforcing the role of neuropathological examination of both hemispheres for accurate clinicopathological correlations and definitive etiological diagnosis.

#5

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology2026 Mar 14

Pre-mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co-pathologies. This study aimed to develop a machine learning-based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored. Clinical information was automatically abstracted from medical records of the Mayo Clinic Brain Bank using fine-tuned Generative Pre-trained Transformer 4 models. Patients who developed parkinsonism within 3 years of disease onset were included. Six machine learning models were trained with age, sex, family history, and 197 clinical presentations paired with onset information to predict neuropathologic diagnoses, including co-pathologies. Among 7,825 donors, 949 met inclusion criteria, representing 9 neuropathologic categories: Lewy body disease (LBD; n = 128), LBD with Alzheimer's disease (AD; n = 136), progressive supranuclear palsy (PSP; n = 303), PSP with AD (n = 56), PSP with LBD (n = 27), multiple system atrophy (MSA; n = 120), corticobasal degeneration (CBD; n = 99), AD (n = 43), and frontotemporal lobar degeneration (FTLD; n = 37). The CatBoost algorithm achieved an area under the receiver operating characteristic curve of 0.83 across the 9 diagnostic categories at 3 years after onset. Important predictors included age at onset, restricted eye movement, and tremor. The model remained robust to incomplete data, requiring only 23 of 200 parameters for reliable predictions with an area under the curve of 0.80. The algorithm was implemented into a user-friendly program providing diagnostic probabilities with visualizations of parameter contributions. This neuropathology-confirmed diagnostic algorithm provides a cost-effective and interpretable screening tool for parkinsonism, bridging biomarker testing and molecular-targeted therapies. ANN NEUROL 2026.

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Molecular vision
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Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease
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Clinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.

Advanced biomedical research
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Case Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.

Frontiers in ophthalmology
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Bilateral Hypertrophic Olivary Degeneration Following Unilateral Mesencephalic Hemorrhage.

Clinical case reports
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Metabolic Syndrome and Low Back Pain: Evidence from Cross-Sectional and Mendelian Randomization Analysis.

Journal of pain research
2026

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Cell reports
2026

Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.

Frontiers in rehabilitation sciences
2026

Epigenetic regulation of gene expression in rare inherited retinal disorders.

Frontiers in genetics
2026

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Dual-targeted hybrid nanovesicles coordinated bone-muscle regeneration via regulating the DUSP4/p38 MAPK pathway to reverse osteosarcopenia.

Journal of nanobiotechnology
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Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.

Frontiers in neuroscience
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Current drug discovery technologies
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Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology
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A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

International journal of molecular sciences
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Retinal Phenotype in Mucopolysaccharidosis Type III.

American journal of ophthalmology
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Clinica chimica acta; international journal of clinical chemistry
2026

Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.

Journal of neurology
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Adult spinal process impingement syndrome: progression and staging.

Scientific reports
2026

Somatic mosaicism of a novel USH2A variant in Usher syndrome.

Ophthalmic genetics
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Behavioural rigidity as a transdiagnostic marker of nucleus accumbens dysfunction in dementia.

Brain : a journal of neurology
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Optical Coherence Tomography Changes in Central Nervous System Inflammatory Demyelinating Diseases: A Longitudinal Retrospective Study.

Cureus
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Eligibility for Anti-Amyloid-β Monoclonal Antibodies in Patients With Primary Progressive Aphasia due to Alzheimer's Disease in Japan.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
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Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Congenital anomalies
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Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome.

Andrology
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Neuropsychiatric Symptoms in Patients With Pathologically Confirmed Comorbid Alzheimer Disease and Frontotemporal Lobar Degeneration.

Neurology
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REM sleep behavior disorder as a shared motor phenotype: A multidimensional clinical study.

Sleep medicine
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Bilateral Diffuse Uveal Melanocytic Proliferation Masquerading as Refractory Subretinal Fluid Due to Peripapillary Pachychoroid Syndrome.

Cureus
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Optical coherence tomography findings in multiple system atrophy: insights into disease diagnosis, clinical correlations, and dopaminergic degeneration.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.

Langenbeck's archives of surgery
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Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.

BMJ open ophthalmology
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Improving access to care through transportation and internet use for patients with atypical parkinsonism: A pilot study.

Clinical parkinsonism &amp; related disorders
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A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.

Clinical case reports
2026

Neurotoxicity of acrylamide in wild-type and TNF-α depletion mice: possible alternative role of IL-6 and dipolar effects of TNF-α depletion on oxidative stress pathway.

The Journal of toxicological sciences
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Plaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.

Prion
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Trends, burden, and outcomes of hypoglycemia hospitalizations in older adults: a territory-wide study in Hong Kong, 2012-2021.

Archives of gerontology and geriatrics
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[MRI in neurodegenerative Parkinsonian syndromes].

Radiologie (Heidelberg, Germany)
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MASH in Type 2 Diabetes: Pathophysiology, Diagnosis, and Therapeutic Management-A Narrative Review.

Medicina (Kaunas, Lithuania)
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Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

International journal of molecular sciences
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Metabolomics of Multiple System Atrophy Patient-Derived Striatal Medium Spiny Neurons.

Biomolecules
2026

Your Mileage May Vary: Individuals with Primary Progressive Aphasia Differ Widely in Their Utilization of Congruent Prosodic and Visual Information During Sentence Comprehension.

Brain sciences
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Severe elastic fiber fragmentation/loss is correlated with Marfan syndrome in patients with an ascending aortic aneurysm.

Vascular diseases (Paris, France)
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Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.

Neurology international
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Pathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
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Metabolic Syndrome Predisposes Ossabaw Minipig Retina to an Early Neurodegenerative Milieu.

Cells
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Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.

Intractable &amp; rare diseases research
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Isolated Lateral Meniscal Allograft Transplantation With an All-Soft Tissue Graft and Centralization.

Video journal of sports medicine
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Alleviation of cerebellar impairment, cognitive decline, and depression by a chlorzoxazone-folic acid combination in a Huntington's disease transgenic mouse model.

Journal of Huntington's disease
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Emerging Forms of Avian Orthoreovirus Infection in Turkeys in Québec, Canada, Associated with Tenosynovitis, Hepatitis, and Encephalitis (2020-2022).

Avian diseases
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Overview of Best Practices and Complications in Hemodialysis Access.

Cardiology in review
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Defining the postoperative alpha angle threshold for improved outcomes in posterolateral cam lesions.

Hip international : the journal of clinical and experimental research on hip pathology and therapy
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Intravenous Amiodarone in Preexcited Atrial Fibrillation: A Systematic Review.

Circulation. Arrhythmia and electrophysiology
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Functional MRI in Multiple System Atrophy: A Promising Biomarker for Clinical Applications.

Neuropsychiatric disease and treatment
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A transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.

Experimental &amp; molecular medicine
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Transforming Cognitive Frailty to Later Life Self-Sufficiency (AGELESS) Study: Cohort Description and Bibliometric Analysis.

Asia-Pacific journal of public health
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Structural and vascular retinal changes and visual outcomes after treatment of compressive anterior visual pathway lesions: A prospective longitudinal study.

Medicine
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Rotator Cuff Impingement Damages the Organelles of Tenocytes, Resulting in Excessive Tenocyte Apoptosis and Tendinopathy.

The American journal of sports medicine
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[Research progress in surgical treatment of calcaneal fracture malunions].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
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[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

Two-level fusion for Bertolotti syndrome and concomitant adjacent segment disease: patient series.

Journal of neurosurgery. Case lessons
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Incidence and Survival Rates of Frontotemporal Lobar Degeneration: Population-Based Registry Study.

Neurology
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Intercostal Cryoneurolysis for Chest Wall Pain in Patients With Vertebral Osteomyelitis.

Cureus
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Nerve Pathology in Children with Anterior Cutaneous Nerve Entrapment Syndrome.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2026

Homoplantaginin ameliorates osteoarthritis by activating Sirt3/PINK1/Parkin signaling to promote mitophagy and attenuate inflammation in chondrocytes.

Phytomedicine : international journal of phytotherapy and phytopharmacology
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An unexpected diagnosis: Brugada Syndrome in a healthy Kenyan male athlete.

Cardiovascular journal of Africa
2026

The cholinergic system exerts opposing effects on memory at different stages of disease progression in Alzheimer's and Down syndrome model systems.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
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Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

The American journal of case reports
2026

Osmotic demyelination syndrome after liver transplantation: A case report and an updated review.

Saudi journal of anaesthesia
2026

Phoenixin-14 Modulates Nrf2/HO-1, NF-κB, and Apoptotic Pathways in a Rat Model of Monosodium Glutamate-Induced Neurotoxicity.

Journal of biochemical and molecular toxicology
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Targeting CXCL16-expressing macrophages with a biomimetic nanocarrier system attenuates cartilage degeneration in osteoarthritis.

Journal of controlled release : official journal of the Controlled Release Society
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Advances in the neurotoxicity of ecological pesticide maneb: mechanisms and implications for human health.

Frontiers in public health
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Sick Sinus Syndrome and Cerebral Venous Thrombosis: A Connection or Coincidence?
A Case Report and Literature Review.

Oman medical journal
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The Alpha-Gal Syndrome and Hypersensitivity to Biomaterials: Understanding Xenoimmunity.

Cardiology in review
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Taurine protects against gentamicin-induced neurotoxicity through dual modulation of Nrf2 and NF-κB pathways.

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Prolonged Anti-Zic4 Antibody-Positive Cerebellar Degeneration Following COVID-19 Infection.

Neuropsychopharmacology reports
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Carcinoid Heart Disease: Diagnostic Value of Cardiac MRI in a Patient With Metastatic Small‑Intestinal Neuroendocrine Tumor.

Journal of the Belgian Society of Radiology
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Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

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Erythropoiesis-inosine metabolic axis failure underlying retinal neurodegeneration in glaucoma: novel diagnoses and therapies.

Experimental &amp; molecular medicine
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Revista espanola de salud publica
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Alteration of microRNA Expression Associated with Chronic Back Pain in Patients with Intervertebral Disc Degeneration: A Scoping Review.

International journal of molecular sciences
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Development and Characterization of a Rat Model of Blast Polytrauma and Hemorrhagic Shock for Evaluating Innate Immunotherapies During Prolonged Damage Control Resuscitation.

Cells
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Morphometric features enhance phenotype discrimination in frontotemporal lobar degeneration.

Brain communications
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Cholinergic substrates of gait and postural impairments in Progressive Supranuclear Palsy.

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Onset of Ocular Abnormalities in Children with Hearing Loss.

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Real-world evaluation of Armstrong's criteria in corticobasal degeneration: Phenotypic overlap and diagnostic challenges.

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Cell death &amp; disease
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Repetitive behaviors in syndromes associated with frontotemporal lobar degeneration.

Journal of Alzheimer's disease : JAD
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Current Neuroimaging Modalities to Distinguish Parkinson's Disease from its Mimics: Imaging Features and Implications for Clinical Practice.

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The American journal of case reports
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Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.

Molecular &amp; cellular proteomics : MCP
2026

Revisiting pathologic myopia: imaging evidence of an inflammatory component in the pathogenesis of myopic degeneration.

Frontiers in medicine
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[Analysis of variants of VPS13B gene in a child with Cohen syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

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ROSAH syndrome lacking splenomegaly and complete anhidrosis.

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POEMS syndrome: a neuromuscular perspective.

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Hip: Traumatic and Overuse Injuries.

Seminars in musculoskeletal radiology
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Severe Unilateral Iliopsoas Atrophy After Dysplastic Hip Arthroplasty Leading to Recurrent L4/L5 Disc Degeneration: A Report of a Biomechanical Case.

Cureus
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Bardet-Biedl syndrome presenting with early-onset infantile obesity.

BMJ case reports
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Percutaneous endoscopic gastrostomy in atypical parkinsonian syndromes: survival and aspiration outcomes from a retrospective international cohort.

The New Zealand medical journal
2025

Late-onset anti-Yo antibody-positive paraneoplastic cerebellar degeneration: a case report.

Frontiers in surgery
2026

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

European journal of neurology
2026

Phoenixin-14 ameliorates ovarian morphology in a DHEA-induced rat model of PCOS.

Reproduction &amp; fertility
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Sarcopenia as a Multisystem Disorder-Connections with Neural and Cardiovascular Systems-A Related PRISMA Systematic Literature Review.

Life (Basel, Switzerland)
2026

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

International journal of molecular sciences
2026

Molecular and Cellular Mechanisms Underlying Domoic Acid-Induced Neurotoxicity and Therapeutic Drugs: A Comprehensive Review.

International journal of molecular sciences
2026

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Genes
2026

Comprehensive Analysis of the Influence of Soft Palate Inflammation in Brachycephalic Dogs with BOAS III.

Animals : an open access journal from MDPI
2026

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

Diagnostics (Basel, Switzerland)
2026

Paraneoplastic cerebellar degeneration from an isolated nodal clear cell carcinoma of suspected gynecologic origin: case report and literature review.

Journal of cancer research and clinical oncology
2026

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

Amyotrophic lateral sclerosis &amp; frontotemporal degeneration
2026

Current understanding of mitral valve prolapse syndrome and related arrhythmia: State-of-the-Art Review.

Kardiologia polska
2025

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.

Cureus
2026

Efficacy of Stop GnRH-Agonist/Antagonist versus GnRH-Antagonist Protocols in In Vitro Fertilization Cycles of Patients with Polycystic Ovary Syndrome: A Pilot Randomized Controlled Trial.

International journal of fertility &amp; sterility
2026

Research Progress on the Intervention of Traditional Chinese Medicine Monomers on Signaling Pathways Related to Sarcopenia and Osteoporosis.

Current protein &amp; peptide science
2026

Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.

International journal of colorectal disease
2026

Associations of Cardiovascular-Kidney-Metabolic Syndrome With Age-Related Macular Degeneration Risk.

American journal of ophthalmology
2026

Potential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.

The journal of prevention of Alzheimer's disease
2026

Macrophage polarization: A bridge connecting osteoarthritis and osteoporosis.

Biochemical and biophysical research communications
2026

Navigation-Guided Resection of a Cystic Schwannoma with Spinopelvic Fixation in Acute Cauda Equina Syndrome: A Case Report.

JBJS case connector
2026

Ropivacaine-Based Regional Anesthesia Exerts Muscle-Protective Effects Despite Elevated Compartment Pressure In A Porcine Model Of Acute Compartment Syndrome.

Anesthesiology
2026

Cockayne syndrome mutation in XPG activate the integrated stress response.

Human genetics
2025

Predictive Value of Atherogenic Index for No-Reflow in Patients Undergoing Coronary Intervention for Saphenous Vein Graft with Acute Coronary Syndrome.

Arquivos brasileiros de cardiologia
2026

Engineered CGRP Eye Drops Restore Tear Secretion via TRPM8-SSN Circuitry in a Postrefractive Surgery Mouse Model.

Investigative ophthalmology &amp; visual science
2026

Paraneoplastic Neuro-Ophthalmologic Symptoms as Initial Manifestation of Hodgkin Lymphoma.

Hematology reports
2026

TAVI-in-TAVI in a patient with morquio syndrome: a case report.

European heart journal. Case reports
2025

Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.

Cureus
2026

Persistent Sciatic Artery as a Rare Cause of Sciatic Neuropathy: A Case Report.

Journal of the peripheral nervous system : JPNS
2026

ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Journal of genetics and genomics = Yi chuan xue bao
2026

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Pediatric neurology
2025

A Prospective Study Assessing Functional Outcomes of Arthroscopic Subacromial Decompression with Platelet-Rich Plasma Augmentation in Shoulder Impingement Syndrome.

Malaysian orthopaedic journal
2026

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Documenta ophthalmologica. Advances in ophthalmology
2026

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Cellular and molecular life sciences : CMLS
2026

Mucoid extracellular matrix accumulation as a histopathological marker of aortic fragility: Two autopsy cases and a literature review.

Legal medicine (Tokyo, Japan)
2026

Genomic and Epigenomic Landscapes of Sarcopenia: From Molecular Etiology to Precision Interventions.

Aging and disease
2025

Proteoglycans as Biomarkers of Medial Degeneration in Acute Stanford Type A Aortic Dissection.

Reviews in cardiovascular medicine
2026

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Tremor and other hyperkinetic movements (New York, N.Y.)
2026

Malabsorption Syndromes and Risk of Age-Related Macular Degeneration.

Ophthalmology. Retina
2025

CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.

Georgian medical news
2026

Discovery of (3R,4R)-15: An Advanced Factor B Inhibitor Entering Phase 3 for Complement-Mediated Diseases.

Journal of medicinal chemistry
2026

Effects of hirudotherapy on liver functions, lipid profile, and insulin sensitivity in rats with metabolic syndrome.

BMC complementary medicine and therapies
2026

Coexisting cerebellar ataxia and Lambert-Eaton myasthenic syndrome without malignancy: insights from a case and systematic literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Sweet poison for the eyes: High-Fructose diets as drivers of metabolic disruption and ocular diseases - Insights and therapeutic horizons.

Experimental eye research
2025

Paraneoplastic Cerebellar Syndrome Revealing Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Breast Cancer: A Case Report.

Cureus
2026

Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.

Nature medicine
2026

The spectrum of movement disorders in neurosyphilis: A systematic review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Evaluation of warning strategies for paraneoplastic neurological syndromes associated with PD-1/PD-L1 inhibitors.

Frontiers in immunology
2026

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

Cancer diagnosis &amp; prognosis
2025

Assessment of dry eye disease and retinal nerve fiber layer thickness in chronic smokers.

Contact lens &amp; anterior eye : the journal of the British Contact Lens Association
2026

Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.

The British journal of dermatology
2026

Spontaneous and experimentally induced lesions in NOD-scid gamma and other NOD-derived mouse strains.

Veterinary pathology
2025

Role of gut microbiomes in different ocular pathologies: A systematic review.

World journal of gastrointestinal pathophysiology
2025

Alpha-Gal Syndrome Allergy to Intravitreal Administration of Anti-Vascular Endothelial Growth Factor Agents.

Journal of vitreoretinal diseases
2026

Resveratrol mitigates TOCP-induced spinal cord neurotoxicity by suppressing ferroptosis, a process mediated through the p62/Keap1/Nrf2 pathway.

Toxicology and applied pharmacology
2025

Paraneoplastic syndromes in ovarian cancer: Clinical manifestations, mechanisms and management challenges.

Journal of cancer research and therapeutics
2026

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

American journal of human genetics
2025

Praja1 E3 ubiquitin ligase and the role it plays in neurodegeneration.

The FEBS journal
2025

Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis.

Biomolecules
2025

The Dual Role of RUNX1 in Inflammation-Driven Age-Related Diseases: From Molecular Mechanisms to Clinical Translation.

Biomedicines
2025

Plant-Based Care and Therapy in Ophthalmology.

Antioxidants (Basel, Switzerland)
2025

Characterization of age-related dolichol increases in the retina of the C57BL/6 mouse.

Scientific reports
2025

Conditioned media and extracellular vesicles derived from human Wharton's jelly mesenchymal stem cells improve the in vitro maturation of immature oocytes in normal and PCOS mouse model.

Biomedical engineering online
2026

White matter hyperintensities in the deep cerebral venous territory differ between subcortical and cortical 4-repeat tauopathies.

Parkinsonism &amp; related disorders
2025

Progeroid Syndrome with Signs of Autophagy Dysfunction in the Naked Mole Rat (Heterocephalus glaber).

Biochemistry. Biokhimiia
2026

Soman-induced neurotoxicity in human iPSC-derived cerebral organoids: A whole-transcriptome analysis of ceRNA regulatory networks.

Neurotoxicology
2025

The human ovarian reserve: the narrative and the science.

Human reproduction update
2025

Endovascular treatment of patients concurrent with type 3A aortic syndrome and degeneration (infrarenal) abdominal aortic aneurysm.

Journal of the Chinese Medical Association : JCMA
2026

Glymphatic transport and ocular diseases.

Progress in retinal and eye research
2025

The Paper-Toss Test: enhancing bedside recognition of corticobasal syndrome.

Frontiers in neurology
2025

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.

Frontiers in computational neuroscience
2025

Sex-Specific Impact of Metabolic Syndrome on Brain Structures Vulnerable to Alzheimer's Disease: A Cross-Sectional Study in a Brazilian Cohort.

Brain sciences
2025

Autoimmune-associated early double bioprosthetic valve failure: A case report.

Perfusion
2025

Spinal manifestations of Paget's disease: Case presentation and systematic review.

Brain &amp; spine
2025

[Meibomian gland dysfunction in Salzmann's nodular degeneration].

Vestnik oftalmologii
2025

Neurotoxic and neurobehavioral impacts of silica nanoparticles on brain tissue of albino rats with the potential ameliorative efficacy of liposomal curcumin.

Journal of molecular histology
2026

REDUCTION OF SCLERAL THICKNESS WITH TOPICAL FLUOROMETHOLONE IN MANAGEMENT OF CHRONIC CENTRAL SEROUS CHORIORETINOPATHY COMPLICATED BY POSTERIOR CYSTOID DEGENERATION.

Retinal cases &amp; brief reports
2025

Autoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies.

Frontiers in immunology
2025

Non-pressurized percutaneous endoscopic transforaminal lumbar discectomy in the treatment of cauda equina syndrome caused by lumbar disc herniation.

Frontiers in surgery
2026

Thyroid cancer with internal jugular vein tumor embolism and skull base invasion causing polyneuropathy.

Auris, nasus, larynx
2025

Clinical Framework for Motor Rehabilitation in Parkinsonism: Integrating Individualized and Syndrome-Specific Approaches.

Brain &amp; NeuroRehabilitation
2025

The cyclic nucleotide binding sites of Swiss-Cheese, the Drosophila orthologue of human PNPLA6, are required for its catalytic function.

bioRxiv : the preprint server for biology
2026

Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Gene
2026

Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.

Mitochondrion
2025

Multimodality Imaging Assessment of a Giant Middle Mediastinal Schwannoma.

Echocardiography (Mount Kisco, N.Y.)
2025

TDP-43 suppression of ATP8A2 cryptic splicing implicates phosphatidylserine-driven neuroinflammation in ALS/FTD.

bioRxiv : the preprint server for biology
2025

Practice preference of revision surgery for recurrent lumbar disc herniation: an international survey of AO spine members.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2026

APD-based rod cell model with integrated ion channel mechanisms for investigating the ERG a-wave and retinal diseases.

Free radical biology &amp; medicine
2025

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

International journal of molecular sciences
2026

Integrated peripheral metabolic and inflammatory biomarker signatures are associated with clinical deterioration in Creutzfeldt-Jakob disease.

Neurobiology of disease

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Doenças relacionadas

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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.

  1. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  2. Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Gouti&#xe8;res syndrome-like encephalopathy.
    Cell reports· 2026· PMID 41855203mais citado
  3. Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.
    Frontiers in rehabilitation sciences· 2026· PMID 41847568mais citado
  4. Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.
    Frontiers in neuroscience· 2026· PMID 41835939mais citado
  5. Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.
    Annals of neurology· 2026· PMID 41830446mais citado
  6. Allogeneic haematopoietic cell transplantation in advanced systemic mastocytosis in the new era: A CIBMTR study.
    Br J Haematol· 2025· PMID 40983528recente
  7. Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
    Orphanet J Rare Dis· 2021· PMID 34670591recente
  8. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
    Orphanet J Rare Dis· 2020· PMID 32493418recente
  9. Anatomy of the ventricular septal defect in congenital heart defects: a random association?
    Orphanet J Rare Dis· 2018· PMID 30021599recente
  10. Thalassemias in South Asia: clinical lessons learnt from Bangladesh.
    Orphanet J Rare Dis· 2017· PMID 28521805recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1178(Orphanet)
  2. OMIM OMIM:272600(OMIM)
  3. MONDO:0010095(MONDO)
  4. GARD:16559(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782337(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

Compêndio · Raras BR

Síndrome de ataxia-degeneração tapetoretiniana

ORPHA:1178 · MONDO:0010095
Prevalência
Unknown
Herança
Unknown
CID-10
G11.1 · Ataxia cerebelar de início precoce
Início
Adolescent, Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1848932
Wikidata
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