Results 21 to 30 of about 2,317 (179)

Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

J Pediatr Neurosci, 2016
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
Subramanian V, Hariharan P, Balaji J.
europepmc   +4 more sources

Sjögren: unique surname, two men, four syndromes and one disease [PDF]

Arquivos de Neuro-Psiquiatria
Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called
José Vitor Alécio Rodrigues, Fábio Antônio Serra de Lima, Daniel Pereira Maurício de Barros, Gustavo Leite Franklin, Adriana Meira Tiburtino Nepomuceno, Alessandra de Sousa Braz, Hélio A. G. Teive, Alex T. Meira   +7 more
doaj   +2 more sources

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Annals of Indian Academy of Neurology, 2013
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation,
Faruk Incecik, Ozlem M Herguner, Wiliam B Rizzo, Sakir Altunbasak   +3 more
doaj   +2 more sources

White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Caspian Journal of Neurological Sciences, 2015
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah, Ali Ghabeli-Juibary, Shadi Zamanian   +2 more
doaj   +2 more sources

Sjögren Larsson syndrome: A case study with unique mutation

Brain Disorders
Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia.
Raidah Albaradie, Dana Aljamea, Deeba Noreen Baig, Shahid Bashir   +3 more
doaj   +3 more sources

Anesthetic Considerations for Sjogren-Larsson Syndrome [PDF]

Graduate Medical Education Research Journal, 2020
Franzen, Marcellene, LeRiger, Michelle, Miravite, Maireen, Pellegrino, Kaitlyn   +3 more
core   +5 more sources

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome. [PDF]

Pediatr Dermatol
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Gallagher K, Yousif R, Hummel K, Paller AS.   +3 more
europepmc   +2 more sources

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome. [PDF]

Congenit Anom (Kyoto)
Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic ...
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H.   +11 more
europepmc   +2 more sources

An interesting case of neurocutaneous syndrome [PDF]

, 2023
Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about
Kedlaya, Shraddha K., Palanisamy, Lenin Sankar, Ramachandran, M., Veeramani, Ravikumar   +3 more
core   +2 more sources

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]

, 2008
Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges, Kemp, Stephan, Ofman, Rob, Sanders, Robert-Jan, Wanders, Ronald J. A.   +4 more
core   +2 more sources