ReviewSeminars in neurology2012
Recognition and diagnosis of neuro-ichthyotic syndromes.
Review in Seminars in neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 31 citations in OpenAlex.
- Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia.Brain sciences · 2025Review
- IDEDNIK syndrome: a newly recognized rare genetic disorder caused byFrontiers in neurology · 2025Review
- Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.Molecular genetics & genomic medicine · 2023Article
- Therapeutic Role of ELOVL in Neurological Diseases.ACS omega · 2023Review
- Accuracy and reliability of diffusion imaging models.NeuroImage · 2022Article
- Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.American journal of medical genetics. Part A · 2021Article
- Two Italian Patients withGenes · 2021Article
- Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.Human genomics · 2020Article
- Deleterious mutations inNPJ genomic medicine · 2019Article
- Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.Indian journal of pediatrics · 2015Article
- Inborn errors of cytoplasmic triglyceride metabolism.Journal of inherited metabolic disease · 2015Review
- Neuro-ichthyotic Syndromes: A Case Series.Journal of pediatric neurosciencesArticle
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 1 institution in 1 country.
Funding
Abstract
The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease.
Indexed as
Identifiers
What OpenQuestion holds
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.