ReviewJournal of inherited metabolic disease2008
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet journal of rare diseases · 2011Guideline
- Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.Molecular genetics and metabolismTrial
- Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.Neurology international · 2026Article
- Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Diffuse Leukoencephalopathy and Ischemic Stroke in Hunter Syndrome: Interesting Case with Review of Literature.Annals of Indian Academy of Neurology · 2025Article
- Disturbances in mitochondrial quality control and mitochondria-lysosome contact underlie the cerebral cortex and heart damage of mucopolysaccharidosis type II mice.Metabolic brain disease · 2025Article
- The diagnosis and management of mucopolysaccharidosis type II.Italian journal of pediatrics · 2024Review
- Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice.Molecular therapy. Methods & clinical development · 2024Article
- Characterization of a HIR-Fab-IDS, Novel Iduronate 2-Sulfatase Fusion Protein for the Treatment of Neuropathic Mucopolysaccharidosis Type II (Hunter Syndrome).BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2023Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II.Molecular genetics and metabolism reports · 2021Article
- Article
- Simultaneous Opposition Tendon Transfer with Median Nerve Decompression for Severe Bilateral Carpal Tunnel Syndrome in Adolescents with Hunter Syndrome: A Case Report.Plastic and reconstructive surgery. Global open · 2020Article
- Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice.International journal of molecular sciences · 2019Article
- Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.Orphanet journal of rare diseases · 2018Article
- Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.Medicine · 2018Observational
- A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).American journal of medical genetics. Part A · 2018Article
- CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome).JCI insight · 2016Article
- Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI.Molecular genetics and metabolism · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiovascular, respiratory and gastrointestinal systems may be affected, and oral, dermatological and psychiatric as well as neurological complications are described. Life expectancy is markedly reduced and may be limited to 12 years for severely affected patients. The most common causes of death are airway obstruction and cardiac failure. The most severe symptoms may result from neurological symptoms or complications including hydrocephalus, spinal cord compression, cervical myelopathy, optic nerve compression, and hearing impairment. Patients may also develop carpal tunnel syndrome, sleep apnoea, seizures or mental retardation. This review describes characteristic neurological manifestations in MPS II and its underlying pathophysiology. In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.