A síndrome Strumpell-Lorrain, ou Paraparesia espástica familiar, é um grupo de doenças hereditárias, cuja principal característica é a rigidez progressiva e contração (espasticidade) nos membros inferiores, como resultado de uma lesão ou disfunção dos nervos.
Introdução
O que você precisa saber de cara
Ataxia espástica é uma doença neurológica rara caracterizada por marcha espástica, amiotrofia e atraso global grave do desenvolvimento. Pode apresentar morfologia anormal da pálpebra, propriocepção prejudicada e fasciculações. Associada a alterações genéticas como GLRX5 e AFG3L2.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 78 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 200 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição.
Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084)
Mitochondrion matrix
Anemia, sideroblastic, 3, pyridoxine-refractory
A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.
Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis
Mitochondrion inner membrane
Coenzyme Q10 deficiency, primary, 7
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
Involved in the targeting and/or fusion of transport vesicles to their target membrane
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneSynapse, synaptosomeCytoplasmic vesicle membraneMitochondrion outer membrane
Spastic ataxia 1, autosomal dominant
An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance.
Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:19748354, PubMed:28396416, PubMed:29932645, PubMed:30683687, PubMed:31327635, PubMed:37917749, PubMed:38157846). AFG3L2 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small pe
Mitochondrion inner membrane
Spinocerebellar ataxia 28
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain (PubMed:30239721, PubMed:30575854, PubMed:30970188) Lacks catalytic activity
MitochondrionCytoplasm, cytosolMitochondrion matrix
Developmental and epileptic encephalopathy 71
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life.
Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA
CytoplasmMitochondrion
Spastic ataxia 4, autosomal recessive
A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.
Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility
Cytoplasm, cytoskeleton
Spastic ataxia 2, autosomal recessive
A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected.
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins
Cytoplasm
Spastic ataxia Charlevoix-Saguenay type
A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.
Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regul
NucleusCytoplasmCytoplasm, cytoskeletonEndomembrane systemEndoplasmic reticulum-Golgi intermediate compartmentEndoplasmic reticulumCell membraneMembrane
Spastic ataxia 9, autosomal recessive
An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses.
Mitochondrion matrix
Spastic ataxia 3, autosomal recessive
A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions
Nucleus
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy.
Variantes genéticas (ClinVar)
232 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,424 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
26 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Ataxia espástica
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
6 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive. Here, we evaluate the diagnostic accuracy of conventional and next-generation sequencing-based genetic testing strategies in a cohort of 2,811 individuals with ataxia, spastic paraplegia and dystonia. Exome sequencing establishes genetic diagnoses in 19.3% of cases, and specificity of phenotypic features and age at testing are positive predictors. Genome analysis 'beyond the exome' increases the diagnostic yield by 7.5%, mostly due to the improved detection of structural variants and repeat expansions. Unsolved cases are included in the Solve-RD cohort and subjected to gene-burden analysis, providing evidence for loss-of-function variants in X-chromosomal CD99L2 causing spastic ataxia. Cellular studies show that the transmembrane protein CD99L2 occurs mainly in a ubiquitinated form and serves as an activating interactor of the calcium-dependent protease CAPN1. Ablation of cytoplasmic or extracellular domains of CD99L2 leads to its intracellular mislocalization and abrogation of its interplay with CAPN1. Transcriptome analysis in CD99L2 patient-derived fibroblasts reveals synaptic function-specific disturbances. Impaired CAPN1 activation and dysregulation of downstream neuronal pathways constitute the likely molecular cause for neurodegeneration.
Missense variants in TUBA4A cause myo-tubulinopathies.
Tubulinopathies encompass a spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense variants to neurodegenerative phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, spastic ataxia, and recently, an isolated congenital myopathy, the full phenotypic and genotypic spectrum of TUBA4A-related disorders remains incompletely characterised. In this multi-centre study, we identified one previously reported and 12 novel TUBA4A missense variants in 31 individuals from 19 unrelated families. Remarkably, individuals in 17 families presented with a myopathy without any CNS involvement or history of such disease. In the remaining two families, we observed probands with cerebellar ataxia and epilepsy accompanying proximal and axial muscle weakness along with protein aggregation. The coexistence of neuromuscular and neurodegenerative features with protein aggregation defines a multisystem proteinopathy. These two families thus establish the first association between TUBA4A and multisystem proteinopathy. Our cohort exhibited diverse genotypes and inheritance patterns: four families demonstrated autosomal dominant transmission through heterozygous variants in TUBA4A, three probands had recessive inheritance due to homozygous variants, while the respective heterozygous carriers were asymptomatic; five probands carried de novo variants, and nine probands with heterozygous variants were classified as sporadic cases. Clinical phenotypes ranged from mild to severe myopathy, predominantly affecting the axial and paraspinal muscles. We observed a range of disease onset, from congenital to late adulthood. Creatine kinase levels were variable, ranging from normal to highly elevated. Cardiac function remained preserved across the cohort. Muscle biopsies showed heterogenous myopathic changes, including myofibre size variation, nemaline bodies, core-like regions, and internal nuclei. Immunohistochemical analysis revealed protein accumulations positive for TDP-43 (n=2), p62 (n=5), and TUBA4A (n=6). Complementary in silico and in vitro investigations suggested that the identified TUBA4A variants cause significant protein abnormalities and may differentially impact microtubule dynamics. Correlation analyses integrating clinical severity, variant location, and mechanistic readouts further demonstrated that domain specificity within TUBA4A influences both the pattern of muscle involvement and the extent of microtubule disruption. Our findings establish myo-tubulinopathies as distinct clinical entities, encompassing both primary myopathies and multisystem proteinopathies with muscle involvement. This study broadens the phenotypic and genotypic spectrum of TUBA4A-related disorders beyond autosomal dominant or de novo mechanisms and neurodegenerative presentations. These results underscore the importance of considering TUBA4A variants in the differential diagnosis of axial myopathies and multisystem proteinopathies, regardless of central nervous system (CNS) involvement.
Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder causing progressive spasticity, ataxia and peripheral neuropathy, leading to significant motor and sensory impairments. To advance the study of ARSACS pathogenesis and therapeutic development, we generated eight induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts or peripheral blood mononuclear cells (PBMCs) using non-integrating Sendai virus-based reprogramming method and covering four different SACS gene mutations. These iPSC lines provide a powerful platform to investigate disease mechanisms, evaluate therapeutic candidates, and support the development of personalized medicine approaches for ARSACS. The phenotypic spectrum of SPG7-related neurologic disorder includes uncomplicated spastic ataxia, complicated spastic ataxia, spinocerebellar ataxia, and isolated optic nerve atrophy. Although onset typically occurs in adulthood, it may start in infancy or as late as age 72 years. Initially the spastic paraplegia is typically characterized by insidiously progressive bilateral leg weakness and spasticity or cerebellar findings (ataxia, dysarthria, and dysphagia) or both. Other central nervous system findings include decreased visual acuity due to optic neuropathy, cognitive impairment, and dystonia. Peripheral nervous system involvement manifests as motor and sensory neuropathy, neuropathic pain, and amyotrophy. Associated musculoskeletal involvement includes pes cavus and scoliosis. Spasticity and ataxia are progressive and may result in wheelchair dependence. The diagnosis of SPG7-related neurologic disorder is established in a proband with suggestive findings and biallelic pathogenic variants in SPG7 identified by molecular genetic testing. Treatment of manifestations: Multidisciplinary care by specialists in neurology, ophthalmology, low vision services, audiology, urology, physiatry, occupational therapy, physical therapy, orthopedics, feeding therapy and nutrition, speech-language therapy, social work, psychology, and clinical genetics. Surveillance: Monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations with routinely scheduled evaluations by treating specialists. SPG7-related neurologic disorder is inherited in an autosomal recessive manner. (Several studies have reported a single [heterozygous] pathogenic variant in SPG7 in individuals with SPG7-related neurologic disorder suggesting the possibility of autosomal dominant inheritance; however, the possibility of autosomal dominant inheritance remains controversial.) If both parents are known to be heterozygous for an SPG7 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the familial pathogenic variants. Once the SPG7 pathogenic variants have been identified in an affected family member, heterozygote testing for at-risk relatives and prenatal/preimplantation genetic testing for SPG7-related neurologic disorder are possible.
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.
Type I 3-Methylglutaconic Aciduria (MGCA1) is a metabolic disorder inherited in an autosomal recessive manner. It is caused by a deficiency in the 3-methylglutaconyl-CoA hydratase encoded by the AUH gene, leading to abnormal excretion of urinary organic acids. While the pediatric phenotype encompasses a spectrum ranging from isolated developmental delay to severe forms with leukodystrophy, developmental delay, spastic tetraplegia and movement disorders, the adult phenotype corresponds to a leukodystrophy with spastic ataxia, progressive dementia, and optic neuropathy. Due to its rarity, MGCA1 is most likely underdiagnosed, or diagnosed with an important delay, leading to inadequate care or genetic counselling. A better understanding of the disease's phenotype is thus required to facilitate its clinical and genetic diagnosis, in turn favoring clinical care and genetic counselling. We report two new MGCA1 patients, including an adult male patient with pure, late-onset, and progressive cerebellar ataxia, without optic neuropathy or leukodystrophy. A young female patient case is also reported with moderate developmental delay and leukodystrophy, offering 14-year follow-up data under carnitine supplementation. In both cases, urinary organic acid chromatography was critical to the diagnostic process by demonstrating abnormal and specific urinary organic acids excretion. The description of new, mild and/or late-onset phenotypes expands the clinical and radiological spectrum of MGCA1. Our results show that late-onset MGCA1 patients may present with pure cerebellar ataxia without leukodystrophy, contrasting with current knowledge. These results support the fact that AUH should always be sequenced in patients with pure cerebellar ataxia, but also that urinary organic acid chromatography being a simple, rapid, and cost-effective test, should be performed as a first-tier analysis in all patients with unresolved neurological symptoms. The importance of identifying MGCA1 patients is reinforced by the possibility of implementing a low-risk and possibly effective therapy with low-protein diet and L-carnitine supplementation.
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half-siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs. After significant diagnostic delay, genetic testing revealed both harboured a shared, paternally inherited microdeletion encompassing the SACS gene, and each harboured a different single nucleotide variant in SACS, each likely maternally inherited. Recognition of the clinical and radiologic phenotype of ARSACS may facilitate early diagnosis of this disorder even in the face of uncommon inheritance patterns.
Publicações recentes
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.
🥉 Relato de casoA mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.
Expanding the AFG3L2 Spectrum: A Link to Axonal Neuropathy.
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
📚 EuropePMC255 artigos no totalmostrando 196
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
BMC medicineMulti-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation.
Cerebellum (London, England)Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene.
Annals of Indian Academy of NeurologyLoss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Nature communicationsMissense variants in TUBA4A cause myo-tubulinopathies.
Brain : a journal of neurologyThe Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.
Movement disorders : official journal of the Movement Disorder SocietyGeneration of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Stem cell researchMild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.
The application of clinical geneticsDeciphering Spastic Ataxia: Clinical and Genetic Profiles.
Neurology. GeneticsAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.
Annals of clinical and translational neurologyFeasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study.
Journal of neurologyFrameshift and Copy Number Variants in SACS-Related Neuropathy.
Neurology. GeneticsNerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.
NeuropediatricsTeaching NeuroImage: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Syndrome: The Diagnostic Value of Structural MRI and Diffusion Tensor Imaging Biomarkers.
NeurologyA Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.
Neurology. GeneticsNovel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review.
Cerebellum (London, England)Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region.
Sultan Qaboos University medical journalSpastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Movement disorders : official journal of the Movement Disorder SocietyIdentification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.
Journal of medical case reportsKIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.
NeurogeneticsA Pharmacometrics-Informed Trial Simulation Framework for Optimizing Study Designs for Disease-Modifying Treatments in Rare Neurological Disorders.
CPT: pharmacometrics & systems pharmacologyEfficacy of Manual Wheelchair Skills Training for Improving Skills and Confidence in People With Hereditary Degenerative Disorders: Protocol for a Sequential Multimethods Study.
JMIR research protocolsSacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay.
Archives of biochemistry and biophysicsEarly-Onset Spastic Ataxia in a Patient With the Prion (PRNP) p.Val180Ile Variant.
Journal of movement disordersLong-term benefits of TUDCA supplement in ARSACS zebrafish model.
Scientific reportsCPT1C-related Spastic-Ataxia: Expanding the clinical spectrum of SPG73.
Parkinsonism & related disordersIdentification of spastic ataxia-related proteins via comparative proteomic analysis of the cerebellum of conditional Ankfy1 knockout mice.
Scientific reportsCharlevoix-Saguenay spastic ataxia: a novel mutation in the SACS gene.
Acta neurologica BelgicaSelection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation.
Cerebellum (London, England)A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceS100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Molecular neurobiologyShedding light on the dark: Night blindness in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Parkinsonism & related disordersAlterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS.
Cerebellum (London, England)Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.
Cerebellum (London, England)Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
BMC medical genomicsCurrent and future applications of brain magnetic resonance imaging in ARSACS.
Cerebellum (London, England)Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.
Movement disorders clinical practiceAn Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study.
European journal of neurologyClinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review.
GenePendular Nystagmus: a Novel Feature of ANO10-Related Disorders.
Cerebellum (London, England)Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias.
Cerebellum (London, England)A Tailored Home-Based Training Program Improved Ataxia Severity and Participation in Adults With ARSACS.
Cerebellum (London, England)Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.
Frontiers in molecular neuroscienceTargeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Annals of clinical and translational neurologyA case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.
Parkinsonism & related disordersExpanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.
Clinical geneticsWhole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum (London, England)Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.
Neurobiology of diseaseAltered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.
International journal of molecular sciencesARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.
Cerebellum (London, England)Neuropsychological profile of POLR3A-related spastic ataxia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLongitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia.
Annals of neurologyPatient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study.
NeurologyLongitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response Theory.
Clinical pharmacology and therapeuticsSacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.
Movement disorders : official journal of the Movement Disorder SocietyInvestigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
BMC neurologyIRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Movement disorders : official journal of the Movement Disorder SocietyAutosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation.
Acta neurologica BelgicaJourney Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.
Journal of movement disordersSpectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Neurology. GeneticsAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Secondary to a Novel Mutation in the SACS Gene.
Annals of Indian Academy of NeurologyThickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Journal of vitreoretinal diseasesA human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Biochimica et biophysica acta. Molecular basis of diseaseReduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
Brain communicationsClinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Molecular genetics & genomic medicinePhenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.
Journal of neurologyJiao's style scalp acupuncture combined with physiotherapy for autosomal recessive spastic ataxia of Charlevoix-Saguenay type: A case report.
HeliyonAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.
Journal of movement disordersCompound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
International journal of molecular sciencesProteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.
Frontiers in neuroscienceDe novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Brain : a journal of neurologyAn MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.
Journal of neurologyDigital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).
Movement disorders : official journal of the Movement Disorder SocietyMRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Movement disorders : official journal of the Movement Disorder SocietyDriving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay.
Cerebellum (London, England)POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
Annals of clinical and translational neurologyPrediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).
The AAPS journalA 24-Year-Old Man With Spastic Ataxia and Hypodontia.
JAMA neurologyClinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.
Tremor and other hyperkinetic movements (New York, N.Y.)An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
Stem cell researchExpanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Journal of human geneticsNeuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.
Journal of neurologyPNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders.
Muscles (Basel, Switzerland)Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.
American journal of speech-language pathologySpastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease.
Annals of Indian Academy of NeurologyExpert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.
Parkinsonism & related disordersVestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.
Neurology. Clinical practiceToward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.
Cerebellum (London, England)A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.
Current issues in molecular biologyDigenic FLNA and UCHL1 variants resulting in a complex phenotype.
Journal of the peripheral nervous system : JPNSEarly-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene - A Case Report from North India with a Review of Indian Literature.
Annals of Indian Academy of NeurologyMultifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Molecular neurobiologyLate-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.
Acta neurologica BelgicaWidening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
Acta neurologica BelgicaSustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Brain : a journal of neurologyIdentification of SKOR2 IgG as a novel biomarker of paraneoplastic neurologic syndrome.
Frontiers in immunologyA SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
Human geneticsThe mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Frontiers in neurologyIs spastic ataxia 8 a protein misfolding disorder?
Biochimica et biophysica acta. Molecular basis of diseaseSpastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
NeurogeneticsA new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Journal of neurologyTremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant.
Clinical parkinsonism & related disordersThe genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Journal of neurologyResponsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Annals of neurologyA mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS.
Neurobiology of diseaseRestoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.
JCI insight[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNatural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Cerebellum (London, England)In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Stem cells internationalSARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
Brain : a journal of neurologyNovel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.
HeliyonDigital health metrics reveal upper limb impairment profiles in ARSACS.
Journal of the neurological sciencesNovel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
GenesAtaxia and spastic paraplegia in mitochondrial disease.
Handbook of clinical neurologyNot to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
International journal of molecular sciencesA novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.
Surgical neurology international[Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study.
PloS oneThe J Domain of Sacsin Disrupts Intermediate Filament Assembly.
International journal of molecular sciencesAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.
Journal of investigative medicine high impact case reportsAFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum (London, England)Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
JAMA neurologyMulti-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Cell reportsClinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Frontiers in neurologyDocumenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Orphanet journal of rare diseasesIdentification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
BiomedicinesInsights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
Current opinion in chemical biologyCase report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.
Frontiers in neurologyLab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A).
Stem cell researchHeterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genetics in medicine : official journal of the American College of Medical GeneticsPhenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears.
Movement disorders clinical practiceThe ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.
The Journal of biological chemistryIntegrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
BiomoleculesCannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaClinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Cerebellum (London, England)A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
BMC neurologyIn vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients.
Biomaterials scienceGuidance on medical physics expert support for nuclear medicine.
The British journal of radiologyApplication of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Journal of applied geneticsGenetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
BMC neurologyParticipation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.
Canadian journal of occupational therapy. Revue canadienne d'ergotherapieA Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.
Frontiers in neurologyMolecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
CellsAutosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Frontiers in cell and developmental biologyTranscriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Cell & bioscienceA novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.
American journal of ophthalmology case reportsReliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder.
Annals of clinical and translational neurologyClinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
CellsWhole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
BMC neurologyNovel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report.
BMC neurologyPhenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
Acta neurologica ScandinavicaAutosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Internal medicine (Tokyo, Japan)A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia.
Frontiers in geneticsSacsin Deletion Induces Aggregation of Glial Intermediate Filaments.
CellsGenetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
International journal of molecular sciencesMolecular Identity and Location Influence Purkinje Cell Vulnerability in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay Mice.
Frontiers in cellular neuroscienceFamily planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.
Patient education and counselingA Diagnostic Approach to Spastic ataxia Syndromes.
Cerebellum (London, England)Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
International journal of molecular sciencesLighthouse in the open sea of spastic ataxia.
Parkinsonism & related disordersSpinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
Neuropathology : official journal of the Japanese Society of NeuropathologyLeukodystrophy Due to eIF2B Mutations in Adults.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesAssessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
NeurologyFunctional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Orphanet journal of rare diseasesA novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
American journal of medical genetics. Part AClinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Journal of the neurological sciencesThree Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.
Neurology. Clinical practiceEfficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
International journal of molecular sciencesCase 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
RadiologyHereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
Acta neurologica BelgicaNovel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay.
Movement disorders clinical practiceExpanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
Journal of the neurological sciencesPOLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySpastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyOptical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Korean journal of ophthalmology : KJOAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Internal medicine (Tokyo, Japan)Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
Parkinsonism & related disordersFocal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
Parkinsonism & related disordersRetinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Movement disorders : official journal of the Movement Disorder SocietyNeurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
Journal of neurologyExpanding the etiologic spectrum of spastic ataxia syndrome: chronic infection with human T lymphotropic virus type 1.
Journal of neurovirologyAutosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
Neuroscience lettersThe Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Movement disorders : official journal of the Movement Disorder SocietyAn ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions.
Nature communicationsFunctional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
Frontiers in neurologyA novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyWiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
American journal of medical genetics. Part ATwo intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
Clinical geneticsIncreasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
NeurogeneticsCase Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Frontiers in geneticsTwo cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
Clinical neurology and neurosurgeryWheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study.
Disability and rehabilitation. Assistive technologySPG46 due to truncating mutations in GBA2: Two cases from India.
Parkinsonism & related disordersA novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyClinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.
Journal of pediatric neurosciencesAssociações
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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.
- Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
- Missense variants in TUBA4A cause myo-tubulinopathies.
- Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
- Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41483232mais citado
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.
- Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
- Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.
- Expanding the AFG3L2 Spectrum: A Link to Axonal Neuropathy.
- Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:316226(Orphanet)
- MONDO:0017845(MONDO)
- GARD:21401(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q21082498(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
