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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
June 2024
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Article Synopsis
- * A systematic review identified 36 new pathogenic and 10 likely pathogenic variants through measuring esterase activity, creating a reliable method for classifying variants related to PNPLA6.
- * The study revealed a significant link between NTE activity levels and the presence of specific symptoms like retinopathy and endocrinopathy, supporting the idea that PNPLA6 disorders are a spectrum of related phenotypes based on NTE genotype and activity, setting the stage for future therapies.
PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.
Mol Genet Metab
March 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern 3001, Switzerland. Electronic address:
We investigated a syndromic disease comprising blindness and neurodegeneration in 11 Saarlooswolfdogs. Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. Histopathology in one affected dog demonstrated cataract, retinal degeneration, central and peripheral axonal degeneration, and severe astroglial hypertrophy and hyperplasia in the central nervous system.
View Article and Find Full Text PDFArticle Synopsis
- * Neurological issues, especially affecting the peripheral nervous system, are common; cases can include conditions like mononeuritis multiplex or even more severe complications like hemorrhage or paralysis.
- * A patient with a long history of EGPA experienced sudden lower limb paralysis and urinary retention due to spinal cord compression; surgical intervention revealed vasculitic lesions, highlighting the potential aggressive nature of this condition and how treatments like corticosteroids can lead to complications like fat deposition.
Nationwide analysis of neuromyelitis optica in systemic lupus erythematosus and Sjogren's syndrome.
Clin Rheumatol
January 2024
Rheumatology, Cook County Hospital, Rush University Medical Center, 1950 W. Polk, Chicago, IL, 60612, USA.
Objective: Neuromyelitis optica (NMO), also known as Devic's disease, is a rare inflammatory demyelinating disorder causing myelitis and optic neuritis. While there have been reports of systemic lupus erythematosus (SLE) and primary Sjogren's syndrome (SS) occurring with NMO, a formal association is not established. We aimed to investigate the occurrence of NMO in SLE and SS patients and study the clinical characteristics and outcomes of NMO and SLE/SS hospitalizations utilizing the national inpatient sample (NIS) database.
View Article and Find Full Text PDFA novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
J Gene Med
July 2023
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Background: Hereditary spastic paraplegia 81 is a recently identified, rare autosomal recessive disease, caused by biallelic pathogenic variants in the SELENOI gene, with only two families reported to date. The features documented in the two previous affected families include sensorineural deafness, blindness, cleft palate, delayed motor development, regression of motor skills, impaired intellectual development, poor speech and language acquisition, spasticity, hyperreflexia, white matter abnormalities and cerebral and cerebellar atrophy.
Methods: In the present study, we performed exome sequencing analysis in a single family with two affected siblings to identify the genetic cause of complicated hereditary spastic paraplegia.
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