Síndrome de paraplegia espástica-nefrite-surdez

This Study Evaluates the ALPCO Syphilis-T and Syphilis-NT CLIA Kits for Detecting Syphilis Antibodies in Serum and Plasma. Samples From At-risk, HIV-positive, Pregnant, and Healthy Individuals Will Assess Assay Performance Versus Established Comparator Tests.

NCT07089836

RECRUTANDO

Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)

NCT02974595

RECRUTANDO

A Study Assessing Adult Patients Referred to an NHS Sleep Service With Suspected Obstructive Sleep Apnoea. This Study Aims to Compare the Sunrise Wearable Diagnostic Device Performance and Potential Inclusion in a NHS Diagnostic Pathway With Oximetry and WatchPAT Which Are Currently Used.

NCT07269483

RECRUTANDO

Pilot Testing PICTURE-THIS

NCT06086301

CONCLUÍDO

The Complex Regional Pain Syndrome (CRPS) is a Chronic Pain Condition. This is a Preliminary Study to Explore and Test Clinical Hypothesis. They Suppose That CRPS Patients Have Impairment in Their Mental or Motor Imagery Abilities.

NCT04703348

CONCLUÍDO

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Timeline de publicações

7.533 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 7.533

#1

Enhancing the endocannabinoid system to treat residual disease in relapse-free multiple sclerosis.

Frontiers in neurology2026

The recent introduction of High-Efficacy Therapies (HETs) in clinical practice has drastically reduced the frequency of acute inflammatory episodes and relapses, in patients with Multiple Sclerosis (MS), gradually shifting the interest of clinicians toward preventing disease progression and treating symptoms associated with the residual disease. This article summarizes the output of a recent meeting (June 2025, in Rome) among an Italian group of neurologists, who discussed about published evidence supporting the involvement of the endocannabinoid system (ECS) in MS spasticity and its associated symptoms. Sharing their clinical experiences about the silent progression of the disease, in patients with Relapse-Free Multiple Sclerosis (RFMS), treated with HETs, authors propose a new algorithm to treat residual disease in RFMS, by enhancing ECS with both cannabinoid agents and lifestyle interventions (diet and physical activity).

#2

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical genetics2026 Mar 20

Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."

#3

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

BMJ case reports2026 Mar 13

Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and intellectual disability. This case report presents an early childhood female patient exhibiting the classic triad of symptoms, along with significant oral complications, including severe dental caries, enamel demineralisation and gingivitis. Molecular genetic testing confirmed a homozygous pathogenic variant in the ALDH3A2 (Aldehyde Dehydrogenase 3 family member 2) gene, establishing the diagnosis. The patient's management encompassed a comprehensive multidisciplinary approach, integrating dental interventions under general anaesthesia, systemic therapies for spasticity and cutaneous manifestations, and regular follow-up care. This case highlights the critical importance of recognising oral manifestations in SLS and emphasises the need for integrated oral healthcare within the broader therapeutic framework for affected individuals.

#4

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2026 Apr

Hereditary spastic paraplegias are a diverse group of neurodegenerative diseases, clinically divided into pure and complex types. Spastic paraplegia 48 is caused by pathogenic biallelic variants in the AP5Z1 gene. Our study aims to expand the phenotypic and genotypic spectrum in this very rare syndrome. Case files, detailed anamnesis, radiological imaging, physical examination findings, ophthalmological examination and genetic results were evaluated as part of the clinical assessment. Whole-exome sequencing was performed for the proband. Sanger sequencing and next-generation sequencing were performed for confirmation of the variants and segregation analysis. We identified two disease-causing variants in the AP5Z1 (NM_014855.3) gene, including a pathogenic nonsense variant (c.1322G > A, p.(Trp441Ter)) and a pathogenic frameshift variant (c.857_866del, p.(Leu286ProfsTer25)). Segregation analysis showed compound heterozygosity of the variants. In this report, we present a patient from Turkey with spasticity, who has compound heterozygous variants in the AP5Z1 gene, representing the 17th case described in the literature. This report expands the phenotypic spectrum of the AP5Z1-related spastic paraplegia type 48, which has only rarely been reported in the literature. It underscores the importance of comprehensive genetic testing and variant interpretation in achieving an accurate diagnosis and providing genetic counselling for affected families with spastic paraplegia.

#5

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology2026

CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined. We retrospectively analyzed 25 individuals with pathogenic CTNNB1 variants using medical records and a questionnaire. Data included genetic variants, perinatal history, developmental milestones, behavioral characteristics, head growth, feeding, sleep difficulties, neurological and ophthalmological assessments. Brain MRIs were reviewed by expert neuroradiologists. Twenty-two distinct heterozygous variants were identified. Microcephaly occurred in 16/22 patients. All exhibited global developmental delay, independent walking was achieved at a mean age of 2.1 years, with regression in 4/16 independent walkers. Behavioral disorders were frequent, as were oral sensorimotor disorders (21/25) and sleep disturbances (13/21). Lower limb hypertonia was present in 22/25 patients [spastic (8) and/or dystonic (11)]. Unstable gait were common among ambulatory patients. Exaggerated startle reactions, often since birth, were reported in 16/21. Exudative vitreoretinopathy was identified in 3/5 patients with retinal angiography. Brain MRI (19 patients) showed: thickening of anterior commissure (8), frontal lobe hypoplasia (9), widening of superior vermian sulci (10) and corpus callosum anomalies (7). This study broadens the spectrum of CTNNB1-related syndrome, reporting a complex motor phenotype combining (i) gait disturbances related to dystonic or non-dystonic hypertonia and unsteadiness, sometimes associated to dystonia in other body parts (ii) possible deterioration of motor achievements over the course of the disease (iii) an exaggerated startle reflex. New non-specific brain anomalies are precisely described. Our work underscores the need for registries and longitudinal studies to refine characterization and guide future therapies. PTS-related tetrahydrobiopterin deficiency (PTPSD) results in a lack of tetrahydropterin, an important cofactor for phenylalanine hydroxylase (PAH), tyrosine hydroxylase, and tryptophan hydroxylase. Deficiency can thus lead to neurotransmitter and neuropsychiatric disorders. The clinical spectrum of PTPSD is broad and differs according to age of onset, severity of disease, and whether preventative therapies were initiated and maintained from an early age. In the severe form, clinical symptoms may become apparent in the neonatal period and can include hypotonia, movement disorders, abnormal eye movements, autonomic dysregulation, and impaired development. Without treatment, developmental delays become more marked. Neurologic symptoms (dysarthria, dystonia, tremors, abnormal gait, parkinsonism, oculogyric crises, motor tics) may be ameliorated by treatment with sapropterin dihydrochloride and neurotransmitter precursors. Other features of the condition can include psychiatric comorbidities (ADHD, anxiety, depression), infant feeding difficulties leading to early growth failure, hyperprolactinemia, growth hormone deficiency, sleep issues, and autonomic dysfunction; many of these features can be ameliorated by appropriate treatment. In treated individuals, development often improves during adolescence, with many adults having a normal IQ level. In the mild (peripheral) form, affected individuals are usually asymptomatic apart from an increase in phenylalanine (Phe) levels. Some remain asymptomatic. However, with time, some have mild developmental delays and can develop deficiency of neurotransmitter production, such that treatment of some asymptomatic individuals may be required. The biochemical diagnosis of PTPSD is established in a proband with confirmed hyperphenylalaninemia, elevated neopterin levels, reduced biopterin levels, and a decreased biopterin-to-neopterin ratio in urine or dried blood spots (DBS) and normal dihydropteridine reductase (DHPR) activity in DBS. The molecular diagnosis of PTPSD is established in a proband by identification of biallelic pathogenic (or likely pathogenic) variants in PTS by molecular genetic testing. Targeted therapies: Immediate therapy with sapropterin (tetrahydrobiopterin dihydrochloride; BH4), a cofactor/cosubstrate of PAH, is recommended to reduce blood Phe concentrations in individuals with hyperphenylalaninemia. If sapropterin is not available, dietary Phe restriction should be implemented. Because sapropterin has limited access to the central nervous system (CNS), or rather, this access is only achieved at high doses, therapy with sapropterin does not normalize the activity of tyrosine or tryptophan hydroxylase in people with PTPSD. Additional treatment strategies are necessary for long-term management and may include the use of neurotransmitter precursors (levodopa plus decarboxylase inhibitor (DCI), i.e., carbidopa or benserazide), 5-hydroxytryptophan, and/or dopamine (rotigotine patch, pramipexole) and/or serotonin agonists, or other medications (MAO inhibitors such as selegiline) to address specific neurotransmitter deficiencies and maintain optimal neurologic function. Supportive care: Optimization of dosage and intervals of levodopa/DCI in those with abnormal movements/parkinsonism; growth hormone supplementation and/or optimization of neurotransmitter precursor therapy for growth hormone deficiency; optimization of neurotransmitter precursor therapy for recurrent hyperthermia; anticholinergic treatment may be considered for hypersalivation; standard treatment for developmental delay, spasticity, epilepsy, sleep disorders, and decreased bone mineral density. Biochemical surveillance: Routine Phe monitoring in infants (age <1 year) weekly until normalized and then every three to six months once levels normalize; every six months in children younger than age 12 years; and every six to 12 months in adolescents and adults; the Phe target ranges correspond to those of PAH deficiency. Prolactin level at each visit. Routine clinical visits with a metabolic specialist (and metabolic dietician if on Phe-restricted diet) every one to three months in infants (age <1 year), every three to six months between ages one and seven years, and every six to 12 months in those age eight years and older. General surveillance: At each visit, measure growth parameters and evaluate nutritional status; asses for new neurologic manifestations (changes in tone, seizures, movement disorders); monitor developmental progress and assess educational needs; monitor for behavioral issues (anxiety, ADHD, emotional dysregulation, depression, aggression); and assess for signs and symptoms of sleep disorders. At ages two, six, 12, and 18 years, consider neuropsychological evaluation. In adulthood, periodic parathormone levels and DXA scan. As needed, consider EEG to differentiate from movement disorder seizures. Agents/circumstances to avoid: Persons with PTPSD on Phe-reduced diet should either avoid products containing aspartame or calculate total intake of Phe when using such products and adapt diet components accordingly. Evaluation of relatives at risk: If prenatal genetic testing has not been performed, each at-risk newborn sib should be evaluated immediately (at or just after 24 hours) after birth for PTPSD using measurement of blood Phe concentration to allow for earliest possible diagnosis and treatment. If older sibs have not undergone NBS or genetic testing for the known familial pathogenic variants in PTS, measure blood Phe concentrations to clarify their disease status. Pregnancy management: Women with PTPSD who have received appropriate treatment throughout childhood and adolescence and during pregnancy may have offspring with normal intellectual and behavioral development, particularly if levels of Phe are kept in the normal range during pregnancy. Intensive clinical and biochemical supervision by a multidisciplinary team before, during, and after pregnancy in a woman with PTPSD is essential to control the symptoms of the disease, adjust the treatment if needed, and monitor the development of the fetus. If the affected woman has elevated blood Phe concentrations during pregnancy, the fetus is at high risk for maternal phenylketonuria (MPKU) syndrome (reported specifically in women who have PAH deficiency as the primary cause of their elevated Phe levels), including malformations and intellectual disability, since Phe is a potent teratogen. PTPSD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a PTS pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial PTS pathogenic variants. Children born of one parent with PTPSD and one parent with two normal PTS alleles are obligate heterozygotes. If the mother is the affected parent, MPKU syndrome is a critical issue. Females with PTPSD should receive counseling regarding the teratogenic effects of elevated maternal plasma Phe concentration (i.e., MPKU syndrome) when they reach childbearing age. Once the PTS pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing for PTPSD are possible.

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📚 EuropePMCmostrando 200

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

Standard work tools for managing pediatric baclofen pump infections and withdrawal.

Enhancing the endocannabinoid system to treat residual disease in relapse-free multiple sclerosis.

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

An MSA-P patient presenting with preserved glucose metabolism in the putamen, cerebellar hypometabolism and pronounced loss of presynaptic dopamine transporter in the striatum.

EJNMMI reports

Archives of rehabilitation research and clinical translation

Manual Dexterity in Patients with Disorder of Consciousness.

Molecular genetics and metabolism

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

BMJ case reports

Phosphatidylethanolamine: Its biological significance and responses to nutritional factors for neurohealth.

The Journal of nutrition

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

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

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.

Metabolic brain disease

Outcomes of adherence to play therapy in children with cerebral palsy: a clinical trial.

La Clinica terapeutica

Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.

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Cellular and molecular neurobiology

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Pharmaceuticals (Basel, Switzerland)

Cannabidiol in Neurology: Current Insights and Translational Perspectives.

Urine Metabolomics and Machine Learning Identify Metabolic Features and Potential Biomarkers of HTLV-1-Associated Myelopathy (HAM).

Transcutaneous Spinal Cord Stimulation Improves Upper and Lower Limbs' Motor and Sensory Function in a Subject with Central Cord Syndrome: A Case Report.

Neurology international

American journal of human genetics

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Journal of medical virology

Morbidity and Mortality Among People Living With HTLV-1: A 30-Year Retrospective Analysis in a Brazilian Cohort.

Pain in multiple sclerosis: clinical phenotypes and therapeutic strategies - a narrative review.

Pain reports

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Frontiers in immunology

Movement disorders : official journal of the Movement Disorder Society

The 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.

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Molecular syndromology

medRxiv : the preprint server for health sciences

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

A Lyme Neuroborreliosis Case Presenting With Ophthalmoplegia, Dysarthria, and Spastic Quadriparesis.

BMC musculoskeletal disorders

Differential diagnosis of degenerative cervical myelopathy considered in patients spine surgeons referred to neurologists: a retrospective cohort study.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Neurology. Genetics

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

BMJ case reports

Early Recognition and Intervention for Poststroke Spasticity: A Scientific Statement From the American Heart Association.

Stroke

Amyotrophic lateral sclerosis & frontotemporal degeneration

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

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Frontiers in genetics

Molecular genetics & genomic medicine

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Clinical Presentations and Treatment of Baclofen Toxicity and Withdrawal: A Systematic Review.

CNS drugs

Stiff Person Syndrome: A Case Report.

Lancet regional health. Americas

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.

Clinical parkinsonism & related disorders

Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome.

Journal of medical genetics

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Gut Microbiome Dysbiosis is Associated With Human T-Lymphotropic Virus Type 1 (HTLV-1) Infection and Disease Progression to HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis: A Cross-Sectional Study.

Smart medicine

Impact of a Multidisciplinary Lower Limb Spasticity Clinic on Gait Speed, Dynamic Balance, Quality of Life, and Service Outcomes in a Neurological Outpatient Setting; a Pragmatic pre-Post Observational Study.

NeuroRehabilitation

Baclofen Potentiates Neurological Impairment in Dialysis Disequilibrium Syndrome.

European journal of human genetics : EJHG

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Movement disorders clinical practice

Voice and Speech in Atypical Parkinsonian Disorders.

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

Georgian medical news

Acute Spinal Cord Syndrome As the Initial Manifestation of Multiple Sclerosis: A Case Report.

Journal of pediatric orthopedics

The Age of Definitive Fusion Surgery for Early Onset Scoliosis Has Remained Constant Over the Past 2 Decades.

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

A proof-of-concept study on the effectiveness of botulinum toxin on spasticity plus syndrome in multiple sclerosis.

Case reports in neurology

Stiff-Person Syndrome with Anti-Amphiphysin Antibodies: A Paraneoplastic Phenomenon Revealing Breast Cancer in a 77-Year-Old Male.

Acta paediatrica (Oslo, Norway : 1992)

Systematic Review on Genetic Variants in Children With Cerebral Palsy.

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists

Dantrolene and cyproheptadine as salvage therapy for severe intrathecal baclofen withdrawal: A case report.

bioRxiv : the preprint server for biology

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

Intermittent Claudication of the Spinal Cord versus Neurogenic Claudication: Jean Jules Dejerine (1849-1917).

World neurosurgery

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Seminars in pediatric neurology

Lennox-Gastaut syndrome: Comorbidities and clinical implications.

Systematic analysis of adverse reactions associated with dantrolene treatment: From clinical features to molecular mechanisms.

Medicine

Endocrinology, diabetes & metabolism case reports

Webb-Dattani syndrome in a 17-year-old girl.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

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Journal of neuroimaging : official journal of the American Society of Neuroimaging

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Rare (Amsterdam, Netherlands)

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Swiss Cheese Gene Is Important for Intestinal Barrier, Microbiome, and Lipid Metabolism Regulation in Drosophila Gut.

Neuromuscular disorders : NMD

Mills' syndrome and myasthenia gravis: a case report.

The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.

Journal of neurology

Topics in stroke rehabilitation

Effectiveness of contrast compression therapy for post-stroke complex regional pain syndrome: a randomized control trial.

Biomolecules & biomedicine

Dantrolene use across surgical and medical care at Mayo Clinic from 2010 to 2024: Indications, frequency, and value for identifying malignant hyperthermia.

Journal of human genetics

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Uses and technique of ultrasound-guided botulinum toxin infiltration.

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Journal of neuromuscular diseases

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

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ERLIN1: A central regulator of protein quality control, lipid homeostasis, and cellular signaling at the endoplasmic reticulum.

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USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.

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Coordination index - A method for the assessment of the inter-joint coordination during gait.

Gait & posture

Frontiers in neuroscience

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.

Neuropediatrics

Movement disorders : official journal of the Movement Disorder Society

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Progressive spinal cord involvement in Leigh syndrome due to an NDUFV1 variant.

Radiology case reports

Molecular biology reports

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.

Journal of inherited metabolic disease

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

American journal of human genetics

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Teaching NeuroImage: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Syndrome: The Diagnostic Value of Structural MRI and Diffusion Tensor Imaging Biomarkers.

Orphanet journal of rare diseases

Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.

Surgical neurology international

Selective peripheral neurotomy for multifocal spasticity: Two-dimensional operative video.

Case reports in neurological medicine

Stiff Knee Gait After Stroke: The Potential Compensatory Role of Mid-Swing Rectus Femoris Activity.

Genetic insights into bovine spastic syndrome (Crampy) in Holstein dairy cattle.

Journal of dairy science

Botulinum toxin therapy for neurological disorders: Serendipitous benefits on sleep quality and underlying mechanisms.

Sleep medicine reviews

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

Brain communications

Peripheral neuromodulation in spasticity-plus syndrome: effects of pulsed radiofrequency on tonic-painful disorders in multiple sclerosis.

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Molecular syndromology

Brain : a journal of neurology

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

[The effectiveness of using a centrally acting muscle relaxant in combination with botulinum toxin injections in patients with spasmodic torticollis].

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome.

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Movement disorders clinical practice

SPOAN Syndrome in Southern Brazil: Case Report and New Insights.

Frontiers in rehabilitation sciences

Intramuscular hemorrhage during rehabilitation in a post-stroke patient with vascular Ehlers-Danlos syndrome: a case report and review of spasticity-related muscle injury.

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Topics in stroke rehabilitation

Comparative effects of dynamic and static stretching on spasticity reduction in stroke patients using a robotic hand-wrist stretching device.

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

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Can Ziconotide Be Used to Replace Opioids? Exploratory Clinical Experience in 5 Patients Treated in the Pain Unit.

Journal of pain research

Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature.

Nature reviews. Neurology

Progress and challenges in sporadic late-onset cerebellar ataxias.

Amyotrophic lateral sclerosis & frontotemporal degeneration

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

Turkish archives of pediatrics

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Case reports in infectious diseases

Human T-Lymphotropic Virus Type 1-Associated Myelopathy With Autoimmune Cholangiopathy: An Unusual Immune Conundrum in a Young Patient.

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Polish archives of internal medicine

Therapeutic use of cannabis and cannabinoids: benefits and risks.

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

Perinatal Arterial Ischemic Stroke in Monochorionic Twins: A Retrospective Observational Single-Center Cohort Study.

Stroke

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

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".

Case reports in neurological medicine

Longitudinal Extensive Transverse Myelitis After Respiratory Syncytial Virus Vaccination With Positive Anti-Recoverin Antibodies.

The efficacy and safety of the ketogenic diet in infantile epileptic spasm syndrome: a meta-analysis.

Seizure

Neural regeneration research

A novel contralateral ulnar nerve transfer model for selective muscle reinnervation in upper motor neuron syndrome.

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Genes

Internal medicine (Tokyo, Japan)

Post-acute Corticospinal and Spinal Tractopathy after Coronavirus Disease 2019: A Novel Post-infectious Neurological Syndrome?

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

BMJ case reports

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Frontiers in genetics

The Journal of the Association of Physicians of India

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Visual hallucinations due to oral baclofen withdrawal.

Medicina clinica

The American journal of case reports

Severe Bradyarrhythmia and Reduced Cardiac Output Due to Oral Baclofen Withdrawal in a 24-Year Old Man: A Case Report.

Clinical medicine insights. Pediatrics

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Brain : a journal of neurology

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Frontiers in genetics

Journal of the peripheral nervous system : JPNS

Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.

medRxiv : the preprint server for health sciences

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

A Hematologic Twist: Zinc-Induced Copper Deficiency Mimicking Myelodysplastic Syndrome.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

[Myoadaptive overload syndromes of lower extremities in multiple sclerosis patients].

Muscles (Basel, Switzerland)

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Medicine

2024

PRKAG2 Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

Frontiers in immunology

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

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

European journal of human genetics : EJHG

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.

Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy.

Pediatric neurology

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

"Crab sign" in an ataxia patient with central nervous system Erdheim Chester disease: a novel neuroimaging finding with review of literature.

High-Frequency Transcutaneous Electrical Nerve Stimulation in the Management of Pyramidal Tract-Related Spasticity: A Systematic Review.

The journal of hand surgery Asian-Pacific volume

Management of the Clenched Fist in Adult Patients with Upper Motor Neuron Syndrome.

Healthcare (Basel, Switzerland)

YouTube as a Source of Patient Information for Cerebral Palsy.

Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.

Nutrients

Pathophysiology of Achalasia.

Digestion

Journal of neuropathology and experimental neurology

Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.

2024

Sclerotherapy for Management of Intrathecal Pump Seroma Formation: A Case Series.

Pain medicine case reports

The Journal of hand surgery

Comprehensive Examination of Upper-Extremity Spasticity.

Regional Anesthesia With Levobupivacaine in a Patient With a RyR2 Gene Mutation After Cardiac Arrest: A Case Report.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Gene

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].

A review about muscle focal vibration contribution on spasticity recovery.

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Journal of pediatric rehabilitation medicine

Gait abnormalities in children with FOXP1 syndrome: A case series.

Subacute Combined Degeneration Presenting With Prominent Autonomic Symptoms 12 Years After Total Gastrectomy: A Case Report.

American journal of medical genetics. Part A

The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

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

Heterotopic calcification in a child presenting as acute on chronic myelopathy.

Journal of medical case reports

Functional improvement by tendon transfer for residual wrist dysfunction after botulinum therapy for severe upper limb spasticity: a case report.

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

Revue neurologique

Przeglad epidemiologiczny

A rare case of Pott's Disease in a 10-year-old female patient of Indian origin.

Advances and technical standards in neurosurgery

Selection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.

Healthcare (Basel, Switzerland)

Efficacy and Safety of Combined Treatment with Traditional Herbal Medicine and Western Medicine for Children with Pertussis-like Syndrome: Systematic Review and Meta-Analysis.

Zinc-Induced Copper Deficiency Myeloneuropathy Masquerading as Paraneoplastic Syndrome: A Case Report.

Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.

Ophthalmic genetics

Primary Lateral Sclerosis: Implications for Diagnostic Criteria From a Natural History Study in the Netherlands.

European heart journal. Case reports

A case report of Kounis syndrome presenting with coronary angina pectoris and coronary microcirculatory disturbance, resulting in takotsubo cardiomyopathy-like changes.

Spastic paraplegia with short stature: Think of Troyer syndrome.

Acta neurologica Belgica

La Revue de medecine interne

French protocol for diagnosis and management of type 1 interferonopathies.

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

Ophthalmic surgery, lasers & imaging retina

Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.

Pacing and clinical electrophysiology : PACE

Indication of Implantable Cardioverter Defibrillators for Ventricular Arrhythmias in Coronary Spastic Angina.

American journal of medical genetics. Part A

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Molecular biology reports

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Neurological research and practice

Motor phenotypes of amyotrophic lateral sclerosis - a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction.

Life (Basel, Switzerland)

Applicability of the Instrumented Pendulum Test for Assessing Limb Viscoelastic Properties in Neurological and Internal Diseases: A Narrative Review.

Movement disorders : official journal of the Movement Disorder Society

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Severe Case of Intrathecal Baclofen Withdrawal: A Case Report.

Developmental neurobiology

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

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

Arginase 1 deficiency: a treatable form of spastic paraplegia.

Orphanet journal of rare diseases

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Management Approaches to Spastic Gait Disorders.

Muscle & nerve

Neurological research and practice

Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.

Highly Aggressive Multiple Sclerosis Relapse During Pregnancy Following SARS-CoV-2 Infection: A Case Report and Literature Review.

Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.

Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.

Biomedicines

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

The implications of hyperekplexia on children's quality of life: a report on two cases.

Molecular genetics and metabolism

Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated.

Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.

Immunological medicine

A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.

Brain & development

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay.

Successful treatment with refractory myasthenia gravis that developed after allogeneic hematopoietic stem cell transplantation: two case reports.

Frontiers in immunology

Encephalitis (Seoul, Korea)

An interesting case of subacute sclerosing panencephalitis presenting with Balint's syndrome and dysautonomia.

Anti-Ri Associated Paraneoplastic Cervical Dystonia and Laryngospasm in a Patient with Nasopharyngeal Carcinoma.

Noro psikiyatri arsivi

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Neurobiology of disease

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

BMC medical genomics

Movement disorders clinical practice

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.

Annals of neurosciences

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Journal of medical case reports

Hybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.

Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

The Lancet. Neurology

Parkinsonism & related disorders

A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.

Child: care, health and development

Outpatient Management of Clinical Comorbidities in Children With Cerebral Palsy in Low- and Middle-Income Countries.

medRxiv : the preprint server for health sciences

Partial loss of FITM2 function causes hereditary spastic paraplegia.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

[Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review].

Journal of movement disorders

CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients.

Próxima:Associações

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de paraplegia espástica-nefrite-surdez.

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Próxima:Comunidades

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de paraplegia espástica-nefrite-surdez

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Próxima:Doenças relacionadas

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Paraplegia espástica complexa autossômica dominante

12 em comum

ORPHA:100979

Sialidose

8 em comum

ORPHA:309294

Epilepsia, mioclonia progressiva

8 em comum

ORPHA:98261

Síndrome Galloway-Mowat

7 em comum

ORPHA:2065

Amiloidose ATTR hereditária

7 em comum

ORPHA:271861

Síndrome Cockayne tipo 1

7 em comum

ORPHA:90321

Microcefalia isolada congênita

Duplicação/triplicação parcial do cromossomo 5

ORPHA:2512

ORPHA:262211

Sialidose tipo 2

ORPHA:87876

Síndrome Renpenning

Síndrome de blefarofimose-perturbação do desenvolvimento intelectual

ORPHA:3242

Síndrome Joubert com defeito hepático

ORPHA:293642