Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report [PDF]
BMC Medical Genetics, 2018 Background Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia ...
Kye Hee Cho +4 more
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Karl Gustaf Torsten Sjögren and the Sjögren-Larsson syndrome [PDF]
Dermatology Reports, 2011 Karl Gustaf Torsten Sjögren (1896-1974) a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry. Sjögren studied medicine at the University of Uppsala.
Khalid Al Aboud, Daifullah Al Aboud
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Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways [PDF]
Metabolites, 2023 Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy.
Hongying Daisy Dai +4 more
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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum [PDF]
JIMD Reports, 2020 Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase.
Pippa Staps +8 more
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End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature [PDF]
Therapeutic Advances in Rare Disease, 2022 Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH).
Lester H. Lambert +3 more
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Atypical Presentation of Sjögren-Larsson Syndrome [PDF]
Case Reports in Pediatrics, 2017 Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli +6 more
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Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation [PDF]
Molecular Genetics & Genomic Medicine, 2020 Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.
Kamel T. Abidi +5 more
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Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome [PDF]
Clinical Case Reports, 2018 Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri +3 more
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Anesthetic Considerations for Sjögren-Larsson Syndrome
Graduate Medical Education Research Journal, 2020 Mentor: Michelle LeRiger, Marcellene Franzen, Kaitlyn Pellegrino Program: Anesthesiology Type: Case Report Background: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by a mutation in the gene encoding fatty ...
Maireen Miravite +3 more
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A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation [PDF]
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 +3 more
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