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Síndrome de hipoplasia cerebelar-degenerescência tapetorretiniana
ORPHA:2246CID-10 · Q04.3CID-11 · LD20.0YDOENÇA RARA

A Síndrome de Hipoplasia Cerebelar e Degeneração Tapetorretiniana é uma condição rara que tem como principal característica uma má-formação no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ela se manifesta com o cerebelo sendo menor ou menos desenvolvido que o normal, alterações de pigmentação na retina dos dois olhos, deficiência intelectual que pode variar de leve a moderada, e um atraso bem acentuado no desenvolvimento da fala e da linguagem. Os sintomas incluem um atraso no desenvolvimento da criança desde cedo, problemas de visão que não pioram com o tempo, afetando tanto o centro quanto a lateral do campo de visão. Em alguns casos, as alterações na retina podem não causar nenhum sintoma visual. Também pode apresentar tônus muscular baixo, dificuldade de coordenação motora que não piora, e nistagmo (movimentos involuntários e repetitivos dos olhos).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Hipoplasia Cerebelar e Degeneração Tapetorretiniana é uma condição rara que tem como principal característica uma má-formação no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ela se manifesta com o cerebelo sendo menor ou menos desenvolvido que o normal, alterações de pigmentação na retina dos dois olhos, deficiência intelectual que pode variar de leve a moderada, e um atraso bem acentuado no desenvolvimento da fala e da linguagem. Os sintomas incluem um atraso no desenvolvimento da criança desde cedo, problemas de visão que não pioram com o tempo, afetando tanto o centro quanto a lateral do campo de visão. Em alguns casos, as alterações na retina podem não causar nenhum sintoma visual. Também pode apresentar tônus muscular baixo, dificuldade de coordenação motora que não piora, e nistagmo (movimentos involuntários e repetitivos dos olhos).

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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

Partes do corpo afetadas

👁️
Olhos
5 sintomas
🧠
Neurológico
4 sintomas

Características mais comuns

90%prev.
Deficiência visual
Muito frequente (99-80%)
90%prev.
Nistagmo
Muito frequente (99-80%)
90%prev.
Ataxia
Muito frequente (99-80%)
90%prev.
Comprometimento cognitivo
Muito frequente (99-80%)
90%prev.
Hipoplasia cerebelar
Muito frequente (99-80%)
90%prev.
Hipotonia
Muito frequente (99-80%)
9sintomas
Muito frequente (9)

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

Deficiência visualVisual impairment
Muito frequente (99-80%)90%
NistagmoNystagmus
Muito frequente (99-80%)90%
Ataxia
Muito frequente (99-80%)90%
Comprometimento cognitivoCognitive impairment
Muito frequente (99-80%)90%
Hipoplasia cerebelarCerebellar hypoplasia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202569 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de hipoplasia cerebelar-degenerescência tapetorretiniana

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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

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

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

European journal of neurology2026 Feb

Biallelic pentanucleotide expansions in RFC1 cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and a growing spectrum of presentations. We aimed to clinically characterize a cohort of patients from Sweden with biallelic expansions in RFC1. We retrospectively enrolled patients with homozygous expansions in RFC1 from a tertiary center in Sweden, evaluating clinical and genetic data. Assessments included nerve conduction studies (NCS, n = 27), electromyography (n = 7), quantitative sensory testing (n = 18), brain MRI (n = 27), and vestibular/eye motor tests (n = 18-21). Of the 30 patients enrolled, 28 were ethnic Swedish; 17/30 from smaller regions, including eight (27%) from Norrbotten. Twenty-two patients met the CANVAS criteria. Mean age of onset was 52 ± 12 years (range 20-70), and disease duration was 14 ± 12 years. Symptoms matched the CANVAS acronym with multisystemic features in 83%, including dysautonomia (77%), dyskinesia (36%), and bradykinesia (17%). Phenotypes overlapped with MSA-C (n = 2) and mitochondrial ataxias (n = 1). Notably, one symptomatic patient lacked neuropathy on NCS. Annual disease progression was slow (0.3 by spinocerebellar degeneration functional score, 1.2 by SARA). At vestibular testing, 47% showed a preserved caloric response and pathologic angular VOR with a nonsignificant trend among younger patients and milder ataxia; otolith function was largely preserved. Our findings expand the RFC1 spectrum, suggesting a founder effect in Sweden and extensive subclinical involvement. RFC1-spectrum disorder should also be considered in patients with cerebellar and vestibular dysfunction but lacking neuropathy. A discordant VOR pattern may represent an incipient sign of RFC1-spectrum disorder; interestingly, otolith pathways seem to be generally spared.

#3

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

International journal of molecular sciences2026 Jan 15

Hereditary ataxias are a heterogeneous group of disorders with overlapping clinical presentations but diverse genetic and molecular etiologies. Biomarkers are increasingly essential to improve diagnosis, refine prognosis, and accelerate the development of targeted therapies. Following PRISMA-ScR guidelines, we conducted a scoping review of PubMed and complementary sources (2010-2025) to map and describe the current landscape of genetic, imaging, fluid, electrophysiological, and digital biomarkers across the most prevalent hereditary ataxias, including SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, SCA27B, dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich's ataxia (FRDA), RFC1-related ataxia (CANVAS), SPG7, and fragile X-associated tremor/ataxia syndrome (FXTAS). Eligible evidence encompassed observational cohorts, clinical trials, case series, and case reports providing primary biomarker data, with the objective of characterizing evidence breadth and identifying knowledge gaps rather than assessing comparative effectiveness. Across modalities, converging evidence highlights subtype-specific biomarker signatures. MRI volumetry, DTI, and FDG-PET map characteristic neurodegeneration patterns. Fluid biomarkers such as neurofilament light chain are informative across several SCAs and FRDA, while frataxin levels constitute robust endpoints in FRDA trials. Pathology-specific biomarkers such as ataxin-3 are advancing as tools for target engagement and may generalize to future gene-lowering strategies. Electrophysiological and oculographic measures show sensitivity for early disease detection, and wearable technologies are emerging as scalable tools for longitudinal monitoring. This scoping review synthesizes the heterogeneous evidence on hereditary ataxia biomarkers, highlighting multimodal frameworks that link molecular mechanisms with clinical endpoints. Mapping current approaches also reveals substantial variability and gaps across diseases and modalities, underscoring the need for harmonized validation in international multicenter cohorts and systematic integration into future clinical trials to advance precision medicine in hereditary ataxias.

#4

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 Neurophysiology2026 Jan 06

Neurosyphilis is a well-recognized mimicker and may present with diverse movement disorders resembling neurodegenerative or autoimmune syndromes. This systematic review aims to elucidate the comprehensive clinical, laboratory, imaging, and outcome spectrum of movement disorders in neurosyphilis. This systematic review followed PRISMA guidelines with a protocol registered in PROSPERO (CRD420251135620). PubMed, Embase, Scopus, and Google Scholar were searched. Eligible studies included case reports, case series, and observational cohorts with confirmed or probable neurosyphilis and clinically diagnosed movement disorders. Data on demographics, clinical features, cerebrospinal fluid, neuroimaging, treatment, and outcomes were extracted. We analyzed a total of 48 individual cases reported across 44 publications and two retrospective cohorts (n = 223, with 61 movement disorder patients). The mean age was 47 years (range 10-83), with 76.3% male and 76.3% human immunodeficiency virus negative. Movement disorder subtypes included ataxia (28.9%), parkinsonism (18.4%), choreiform disorders (15.8%), dyskinesias/dystonia (15.8%), and myoclonus (7.9%). The orofacial "candy sign" was noted in 7.9%. In 10 cases, complex presentations mimicked progressive supranuclear palsy, corticobasal degeneration, Creutzfeldt-Jakob disease, and autoimmune encephalitis. CSF serology was positive in 84.2% of cases. Imaging showed cerebral or cerebellar atrophy (34.2%), basal ganglia infarction (15.8%), white matter changes (15.8%), hydrocephalus (5.3%), or normal scans (18.4%). Penicillin was mainstay of therapy (57.9%). Outcomes included marked improvement in 44.7%, partial recovery in 34.2%, persistent decline in 15.8%, and death in 5.3%. Neurosyphilis should be recognized as a treatable cause of secondary movement disorders. Ataxia and parkinsonism predominate, but frequent misdiagnosis delays therapy.

#5

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Experimental neurology2026 Feb

Aicardi-Goutières syndrome (AGS) is a rare leukodystrophy marked by chronic neuroinflammation, white matter (WM) injury, cerebral vasculopathy with calcifications, and progressive neurological decline. A central feature of AGS is sustained overexpression of interferon-alpha (IFN-α), yet its long-term impact on WM integrity remains poorly understood. To investigate this, we used a transgenic mouse model (GIFN) with astrocyte-specific expression of IFN-α that recapitulates key features of AGS. Brain tissue from GIFN mice at 2 and 7 months of age, reflecting early and advanced disease stages, was analysed using haematoxylin and eosin (H&E), Alizarin Red S (ARS), Luxol Fast Blue (LFB), and immunofluorescence (IF) for IBA1 and ASPA. Quantitative PCR was used to assess expression of myelin-associated genes in the corpus callosum and cerebellum. H&E revealed microvascular abnormalities near WM tracts. ARS identified age-dependent calcifications in the corpus callosum and cerebellum. IF confirmed persistent microgliosis and neuroinflammation. WM degeneration was evidenced by demyelination and a significant reduction in OLIG2+ and ASPA+ oligodendrocytes. Gene expression analysis showed downregulation of key myelin-related genes (MBP, PLP1, MOG, OLIG2, SOX10), consistent with histological changes. Chronic astrocyte-driven IFN-α exposure leads to progressive WM pathology, including inflammation, demyelination, and oligodendrocyte loss. GIFN mice provide a robust model of AGS and offer new insights into the mechanisms by which sustained IFN-α disrupts myelin homeostasis. This model may aid in the development of therapeutic strategies for AGS and related interferonopathies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

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

Journal of inherited metabolic disease
2026

Plaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.

Prion
2026

[MRI in neurodegenerative Parkinsonian syndromes].

Radiologie (Heidelberg, Germany)
2026

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
2025

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

Avian diseases
2026

Functional MRI in Multiple System Atrophy: A Promising Biomarker for Clinical Applications.

Neuropsychiatric disease and treatment
2026

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

Neuropsychopharmacology reports
2026

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

Clinical case reports
2026

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

Research square
2026

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.

Neurobiology of disease
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

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

International journal of molecular sciences
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

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

Hematology reports
2025

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

Georgian medical news
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
2025

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

Cureus
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
2025

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

Journal of cancer research and therapeutics
2025

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

Frontiers in computational neuroscience
2025

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

Brain &amp; NeuroRehabilitation
2025

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Molecular neurobiology
2026

Dose-inverted neurotoxicity: La₂O₃ nanoparticles cause redox dysregulation at low concentrations but excitotoxic catastrophe at high doses.

Toxicology
2025

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Genes
2025

[Type 28 spinocerebellar ataxia].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2026

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Experimental neurology
2025

Enhancing Cerebellar Findings with Positional Manoeuvres.

Cerebellum (London, England)
2025

Clinical and tumor features of patients with immune checkpoint inhibitor-related neurological disorders and anti-Yo antibodies.

Therapeutic advances in neurological disorders
2025

The cerebellum beyond motor control: cognitive dysfunction in spinocerebellar ataxias.

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

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia.

Cerebellum (London, England)
2025

Anterior Insula Drives Progressive Structural Brain Network Atrophy in the Behavioural Variant of Frontotemporal Dementia.

Human brain mapping
2025

Anti-Ri Paraneoplastic Neurologic Syndrome in a Patient With Untreated Breast Cancer.

Cureus
2025

Movement Disorders in Toxoplasmosis: A Systematic Review.

Tremor and other hyperkinetic movements (New York, N.Y.)
2025

Case Report: Subacute combined degeneration of the spinal cord mimic accompanying adaptor protein-3B2-IgG.

Frontiers in immunology
2025

A Rare Presentation of Dizziness: Vestibular Testing in Paraneoplastic Cerebellar Degeneration.

Journal of the American Academy of Audiology
2025

Multifaceted Mesodiencephalic Triangles: Insights into Hypertrophic Olivary Degeneration and Oculopalatal Tremor Pathophysiology.

Cerebellum (London, England)
2025

Successful treatment of Charles Bonnet syndrome after cerebellar stroke in a patient with binocular macular degeneration with low dose brexpiprazole: a case report.

Acta neurologica Belgica
2025

Anti-Tr/DNER antibody-associated rapidly progressive cerebellar degeneration in anaplastic large cell lymphoma: A case report with literature review.

Journal of neuroimmunology
2025

PET/CT and Paraneoplastic Syndromes: A Comprehensive Review.

Cancers
2025

Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.

Neurology
2025

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Cerebellum (London, England)
2025

Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.

International journal of molecular sciences
2025

In search of the optimal MRI marker for progressive supranuclear palsy: a large, single-center, retrospective study on the effect of phenotype, diagnostic certainty and disease duration.

Journal of neurology
2025

Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.

Clinical reviews in allergy &amp; immunology
2025

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Communications biology
2025

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Cerebellum (London, England)
2025

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

Neurology India
2025

Exacerbation of paraneoplastic cerebellar degeneration by immune checkpoint inhibitor use in endometrial cancer.

Gynecologic oncology reports
2025

Aberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders.

The Journal of biological chemistry
2025

Tremor and Ataxia in Paraneoplastic Anti-Diacylglycerol Lipase Alpha (DAGLA) Cerebellitis.

Cerebellum (London, England)
2025

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Prenatal diagnosis
2025

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Revue neurologique
2025

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Acta neuropathologica
2025

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Genes
2025

Paraneoplastic cerebellar degeneration combined with Lambert-Eaton myasthenia gravis syndrome in a patient positive for SOX1 antibody.

American journal of translational research
2025

Deep brain stimulation improves cerebellar tremor symptoms in paraneoplastic cerebellar degeneration: a case report.

BMC neurology
2025

Autoimmune encephalitis associated with anti-SOX1 autoantibodies in COVID-19: A case report.

IDCases
2025

PET/CT in Movement Disorders: Update.

Seminars in nuclear medicine
2025

Immune checkpoint inhibitor-associated paraneoplastic cerebellar degeneration in a case of extensive-stage small-cell lung cancer with pre-existing anti-SOX1 antibody.

The journal of medical investigation : JMI
2025

Imaging in paraneoplastic neurological syndromes: a comprehensive review.

Japanese journal of radiology
2025

Neuroimaging in multiple system atrophy: clinical implications and novel developments.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Case Report: Anti-Yo antibody mediated paraneoplastic cerebellar degeneration in a patient with squamous cell lung carcinoma.

Frontiers in immunology
2025

Small cell lung cancer progressing into fatal ascending motor and sensory polyneuropathy despite dramatic response to chemotherapy: A case report.

Medicine
2025

Cerebello-Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2.

Annals of clinical and translational neurology
2025

Hodgkin lymphoma presenting as paraneoplastic cerebellar degeneration: A case report.

SAGE open medical case reports
2025

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP-43 A and B.

Annals of clinical and translational neurology
2025

Lurcher Mouse as a Model of Cerebellar Syndromes.

Cerebellum (London, England)
2025

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.

The Journal of cell biology
2025

Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

International journal of molecular sciences
2025

The Spectrum of Cognitive Impairment in Atypical Parkinsonism Syndromes: A Comprehensive Review of Current Understanding and Research.

Diseases (Basel, Switzerland)
2025

Cerebellar pathology in forensic and clinical neuroscience.

Ageing research reviews
2025

Paraneoplastic Neurologic Syndrome Associated with Fallopian Tube Cancer: A Case Report.

Case reports in oncology
2025

Cerebellar abiotrophy in a quarter horse foal.

Journal of equine veterinary science
2025

Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

bioRxiv : the preprint server for biology
2025

Long-Term Survivor with Paraneoplastic Cerebellar Ataxia and Small-Cell Lung Cancer.

Journal of clinical medicine
2024

Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.

Radiologia brasileira
2025

Longitudinal assessment of white matter alterations in progressive supranuclear palsy variants using diffusion tractography.

Parkinsonism &amp; related disorders
2025

Diagnosis of hereditary ataxias: a real-world single center experience.

Journal of neurology
2025

Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice.

PloS one
2024

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures.

Journal of visualized experiments : JoVE
2024

Roles of CDR2 and CDR2L in Anti-Yo Paraneoplastic Cerebellar Degeneration: A Literature Review.

International journal of molecular sciences
2024

Atypical Presentation of Carcinoma Breast as Paraneoplastic Cerebellar Degeneration on [18F]FDG PET/CT.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
2025

The cGAS-STING, p38 MAPK, and p53 pathways link genome instability to accelerated cellular senescence in ATM-deficient murine lung fibroblasts.

Proceedings of the National Academy of Sciences of the United States of America
2024

Case report: paraneoplastic cerebellar degeneration associated with anti-Yo antibody successfully treated with ofatumumab.

Frontiers in immunology
2025

Anti-Tr/DNER Antibody-associated Paraneoplastic Neurological Syndrome Presenting Limbic Encephalitis with Anaplastic Large Cell Lymphoma.

Internal medicine (Tokyo, Japan)
2024

Paraneoplastic Syndromes of the Nervous System in Patients Suffering from SCLC. A Review of the Recent Literature.

Acta medica academica
2024

Corticobasal degeneration: An update.

Ideggyogyaszati szemle
2024

FLOCCULAR SYNDROME- AN ATYPICAL PRESENTATION OF PARANEOPLASTIC CEREBELLAR DEGENERATION.

Journal of Ayub Medical College, Abbottabad : JAMC
2024

Transdiagnostic Network Localization of Social, Language, and Motor Symptoms in Patients With Frontotemporal Lobar Degeneration.

Neurology
2024

Altered exosomal miRNA profiles in patients with paraneoplastic cerebellar degeneration.

Annals of clinical and translational neurology
2025

Novel goose parvovirus in naturally infected ducks suffering from locomotor disorders: molecular detection, histopathological examination, immunohistochemical signals, and full genome sequencing.

Avian pathology : journal of the W.V.P.A
2024

Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.

International journal of molecular sciences
2024

Blood-Brain Barrier Disruption in Neuroimmunological Disease.

International journal of molecular sciences
2024

Asymmetry in Atypical Parkinsonian Syndromes-A Review.

Journal of clinical medicine
2024

Precision Imaging in Neurodegeneration: The Superiority of Diffusion Tensor Imaging Over Conventional MRI in Differentiating Parkinson's Disease From Atypical Parkinsonian Syndromes.

Cureus
2024

Relative exchangeable copper, a high-quality biomarker for differentiation of Traditional Chinese Medicine syndrome in Wilson's disease.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2024

Performance Assessment of the New EUROLINE Neurologic Syndrome 15 Ag (IgG) for the Determination of Autoantibodies Associated with Neurological Disorders.

Neurology
2024

Beyond the Liver: Neurologic Manifestations of Alcohol Use.

Clinics in liver disease
2024

What we've learnt about autoimmune neurological diseases from neuropathology.

Revue neurologique
2024

Atypical Parkinsonian Syndromes: Structural, Functional, and Molecular Imaging Features.

AJNR. American journal of neuroradiology
2024

Autoimmune Encephalitis: Insights Into Immune-Mediated Central Nervous System Injury.

Korean journal of radiology
2024

Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration.

Neuron
2024

Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia.

Cerebellum (London, England)
2024

The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.

International journal of molecular sciences
2024

Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2024

Paraneoplastic neurological syndromes of small cell lung cancer.

Postepy psychiatrii neurologii
2024

Cerebellar cognitive affective syndrome caused by cerebellar atrophy associated with Wallerian degeneration after pontine haemorrhage: a case report.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2024

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.

Molecular genetics &amp; genomic medicine
2024

Recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms.

Journal of neurology
2024

Paraneoplastic syndromes in patients with melanoma.

Postepy dermatologii i alergologii
2024

Significant improvement in paraneoplastic neurological syndromes without identifiable anti-neural antibodies in patients with breast cancer after breast surgery.

International cancer conference journal
2024

Paraneoplastic Cerebellar Degeneration Revealing Non-Small Cell Lung Cancer: A Case Report.

Cureus
2025

Exploiting fly models to investigate rare human neurological disorders.

Neural regeneration research
2023

Cerebellar and Olfactory Bulb Perturbations Induced by Vanadium Neurotoxicity in the African Giant Rat (Cricetomys gambianus, Waterhouse).

Nigerian journal of physiological sciences : official publication of the Physiological Society of Nigeria
2024

Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia.

Journal of integrative neuroscience
2024

Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.

Revue neurologique
2024

Role of the Cerebellum in Bipolar Disorder: A Systematic Literature Review.

Cureus
2024

Progressive ataxia and palatal tremor (PAPT) with hypertrophic olivary degeneration (HOD): A case report.

Radiology case reports
2024

Overview of treatment strategies in paraneoplastic neurological syndromes.

Handbook of clinical neurology
2024

Epidemiology of paraneoplastic neurologic syndromes.

Handbook of clinical neurology
2024

Hematologic malignancies and hematopoietic stem cell transplantation.

Handbook of clinical neurology
2024

Paraneoplastic neurologic syndrome associated with gynecologic and breast malignancies.

Handbook of clinical neurology
2024

Paraneoplastic antibodies targeting intracellular antigens.

Handbook of clinical neurology
2024

Pathogenesis and immunopathology of paraneoplastic disorders.

Handbook of clinical neurology
2024

Paraneoplastic cerebellar and brainstem disorders.

Handbook of clinical neurology
2024

Paraneoplastic Cerebellar Degeneration Leading to an Early Diagnosis of Peritoneal Serous Papillary Carcinoma.

Internal medicine (Tokyo, Japan)
2024

[Blood-brain barrier breakdown and autoimmune cerebellar ataxia].

Rinsho shinkeigaku = Clinical neurology
2024

Paraneoplastic Cerebellar Degeneration Associated with Breast Cancer: A Case Report and a Narrative Review.

Brain sciences
2024

Ovarian mass Presenting as Paraneoplastic cerebellar degeneration with peripheral neuropathy and anti-Yo antibody.

BMJ case reports
2024

Cerebellar leptomeningeal enhancement: An imaging finding of rapidly progressive Purkinje cell cytoplasmic autoantibody type 1 paraneoplastic cerebellar syndrome.

Journal of neuroimmunology
2024

Cerebellar ataxia and primary Sjogren's syndrome without cerebellar degeneration: a case report.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2023

Late-onset stiff-person syndrome: challenges in diagnosis and management.

Therapeutic advances in neurological disorders
2023

Recent Advances in Immune-Mediated Cerebellar Ataxias: Pathogenesis, Diagnostic Approaches, Therapies, and Future Challenges-Editorial.

Brain sciences
2023

Anesthetic Chalenges And Managment In Patient With Ataxia- Telangiectasia.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2024

FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.

Annals of neurology
2023

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

medRxiv : the preprint server for health sciences
2023

A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.

BMJ case reports
2024

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Movement disorders : official journal of the Movement Disorder Society
2023

A not so incidental 'incidentaloma' - pediatric ganglioneuroma-associated cerebellar degeneration and super-refractory status epilepticus: case report and literature review.

Frontiers in neurology
2023

[18F]PI-2620 Binding Patterns in Patients with Suspected Alzheimer Disease and Frontotemporal Lobar Degeneration.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2024

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Clinical genetics
2024

Monocular Torsional Oscillopsia in Dentato-olivary Disconnection.

Cerebellum (London, England)
2024

Anti-Ma2 Antibody-Mediated Paraneoplastic Cerebellar Degeneration and Myeloneuropathy Secondary to Lymphoma.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Lhermitte-Duclos Disease: A Case Series.

Cureus
2023

Magnetic Susceptibility in Progressive Supranuclear Palsy Variants, Parkinson's Disease, and Corticobasal Syndrome.

Movement disorders : official journal of the Movement Disorder Society
2023

Grey-matter correlates of empathy in 4-Repeat Tauopathies.

NPJ Parkinson's disease
2023

Immune-mediated ataxias: Guide to clinicians.

Parkinsonism &amp; related disorders
2023

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

Italian journal of pediatrics
2023

Novel histotypes of sporadic Creutzfeldt-Jakob disease linked to 129MV genotype.

Acta neuropathologica communications
2024

Assessment and tailored physical rehabilitation approaches in persons with cerebellar impairments targeting mobility and walking according to the International Classification of Functioning: a systematic review of case-reports and case-series.

Disability and rehabilitation
2023

Detection of High-Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins.

Annals of neurology
2023

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.

Expert opinion on investigational drugs
2024

Paraneoplastic Cerebellar Degeneration Accompanied by Seropositivity for Anti-GAD65, Anti-SOX-1 and Anti-VGCC Antibodies Due to Small-cell Lung Cancer.

Internal medicine (Tokyo, Japan)
2023

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Neurobiology of disease
2024

Paraneoplastic Syndromes Associated with Gynecologic Neoplasms: Experience from a Tertiary Care Center in South India.

South Asian journal of cancer
2023

A chlorzoxazone-folic acid combination improves cognitive affective decline in SCA2-58Q mice.

Scientific reports
2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Brain : a journal of neurology
2023

Disability in cerebellar ataxia syndromes is linked to cortical degeneration.

Journal of neurology
2023

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

Advances in experimental medicine and biology
2023

[Hodgkin's lymphoma: sensitive and autonomic neuropathy as a paraneoplastic manifestation].

Medicina
2023

Ataxia-Telangiectasia: A Case Report and a Brief Review.

Cureus
2023

Phenotypic and genetic aspects of hereditary ataxia in dogs.

Journal of veterinary internal medicine
2023

CANVAS, a sensory neuronopathy to look for in ataxia.

Revue neurologique
2023

Historical and More Common Nongenetic Movement Disorders From Asia.

Journal of movement disorders
2023

[Immune-Mediated Cerebellar Ataxias].

Brain and nerve = Shinkei kenkyu no shinpo
2023

Clinical availability of eye movement during reading.

Neuroscience research
2023

Case report: Anti-CARPVIII autoantibody-associated mixed dementia.

Frontiers in psychiatry
2023

The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.

Cells
2023

V180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain.

Neuropathology : official journal of the Japanese Society of Neuropathology
2023

Anti-Yo paraneoplastic cerebellar degeneration in a patient with stage IV ovarian adenocarcinoma during bevacizumab maintenance therapy.

BMJ case reports
2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Orphanet journal of rare diseases
2023

Functional Connectivity From Disease Epicenters in Frontotemporal Dementia.

Neurology
2023

Anti-Zic4 Paraneoplastic Cerebellar Degeneration With Mesial Temporal Lobe Hyperintensity in a Patient With Papillary Thyroid Carcinoma: A Case Report and Review of the Literature.

Cureus
2023

Coordination and Cognition in Pure Nutritional Wernicke's Encephalopathy with Cerebellar Degeneration after COVID-19 Infection: A Unique Case Report.

Journal of clinical medicine
2024

Cerebellar cognitive affective syndrome with psychotic features in a patient with hypertrophic olivary degeneration.

The Clinical neuropsychologist
2023

Septin-3 autoimmunity in patients with paraneoplastic cerebellar ataxia.

Journal of neuroinflammation
2023

Palatal myoclonus and hypertrophic olivary degeneration following wernekinck commissure syndrome: a case report.

BMC neurology
2023

[Non-cerebellar ataxias: posterior column-like ataxia and cerebellar-like ataxia].

Rinsho shinkeigaku = Clinical neurology
2023

A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration.

European journal of neurology
2024

A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model.

Cerebellum (London, England)
2023

Cerebrospinal Fluid Homer-3 Autoantibodies in a Patient with Amnestic Mild Cognitive Impairment.

Brain sciences
2022

High-grade B-cell lymphoma with gastroduodenal involvement showing paraneoplastic cerebellar degeneration: a case report.

Translational cancer research
2023

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.

Human molecular genetics
2023

The importance of olivary hypertrophic degeneration as a differential diagnosis in cerebellar mutism syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.

International journal of molecular sciences
2022

An Etiological Investigation of Paraneoplastic Cerebellar Degeneration in Ovarian Cancer Patients: A Systematic Review.

Cureus
2023

Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2022

Nodular Sclerosing Hodgkin Lymphoma With Paraneoplastic Cerebellar Degeneration.

Federal practitioner : for the health care professionals of the VA, DoD, and PHS
2022

Creutzfeldt-Jakob Disease: A Case Report and Literature Review for Understanding the Big Picture.

Cureus
2022

A review of the neurological complications of breast cancer.

Journal of family medicine and primary care
2022

[Neuropathological Findings in Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].

Brain and nerve = Shinkei kenkyu no shinpo
2022

Out of LINE: Transposons, genome integrity, and neurodegeneration.

Neuron
2022

A rare case of cerebellar degeneration due to primary Sjogren's syndrome.

ARP rheumatology
2023

Clinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.

Neuropathology : official journal of the Japanese Society of Neuropathology
2023

Pearls & Oy-sters: Vibration-Induced Downbeat Nystagmus: A New Cerebellar Sign Observed in Paraneoplastic Syndrome.

Neurology
2022

Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges.

Brain sciences

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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. Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.
    European journal of neurology· 2026· PMID 41603480mais citado
  3. Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.
    International journal of molecular sciences· 2026· PMID 41596528mais citado
  4. 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· 2026· PMID 41493643mais citado
  5. Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Gouti&#xe8;res syndrome.
    Experimental neurology· 2026· PMID 41241047mais citado
  6. CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
    Georgian Med News· 2025· PMID 41511121recente
  7. Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
    J Stroke Cerebrovasc Dis· 2024· PMID 39122055recente
  8. Disability in cerebellar ataxia syndromes is linked to cortical degeneration.
    J Neurol· 2023· PMID 37480400recente
  9. CANVAS, a sensory neuronopathy to look for in ataxia.
    Rev Neurol (Paris)· 2023· PMID 37301658recente
  10. Palatal myoclonus and hypertrophic olivary degeneration following wernekinck commissure syndrome: a case report.
    BMC Neurol· 2023· PMID 36991344recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2246(Orphanet)
  2. MONDO:0016392(MONDO)
  3. GARD:1196(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786188(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 hipoplasia cerebelar-degenerescência tapetorretiniana

ORPHA:2246 · MONDO:0016392
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
Q04.3 · Outras deformidades por redução do encéfalo
CID-11
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4275139
Wikidata
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