424 results match your criteria Sjogren-Larsson Syndrome


Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.

Case Rep Ophthalmol 2022 May-Aug;13(2):341-349. Epub 2022 May 2.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Sjögren-Larsson syndrome (SLS) is a neurometabolic disease with a peculiar crystalline maculopathy. It is yet unclear if vascular abnormalities play a role in SLS maculopathy pathogenesis. We used optical coherence tomography angiography (OCT-A) to search for vessel abnormalities in SLS maculopathy. Read More

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Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.

Mol Genet Metab Rep 2022 Mar 23;30:100839. Epub 2021 Dec 23.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disease caused by mutations in that result in deficient fatty aldehyde dehydrogenase (FALDH) activity and impaired fatty aldehyde and fatty alcohol oxidation. The pathogenesis of SLS is thought to involve accumulation of long-chain fatty aldehydes and alcohols and/or metabolically-related ether glycerolipids. Fatty aldehydes are particularly toxic molecules that can covalently react with proteins and certain amino-containing lipids such as phosphatidylethanolamine (PE), generating an unusual aldehyde adduct, N-alkyl-PE (NAPE). Read More

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Lung transplant after 6 months on ECMO support for SARS-CoV-2-induced ARDS complicated by severe antibody-mediated rejection.

BMJ Open Respir Res 2021 09;8(1)

Department of Cardiothoracic Surgery and Transplantation, Skåne University Hospital Lund, Lund, Sweden.

There have been a few reports of successful lung transplantation (LTx) in patients with SARS-CoV-2-induced acute respiratory distress syndrome (ARDS); however, all reports were with rather short follow-up. Here we present a 62-year-old man without prior lung diseases. Following SARS-CoV-2-induced ARDS and 6 months of extracorporeal membrane oxygenation, he underwent LTx. Read More

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September 2021

Impaired Skin Barrier Function Due to Reduced ω--Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome.

Mol Cell Biol 2021 09 9;41(10):e0035221. Epub 2021 Aug 9.

Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido Universitygrid.39158.36, Sapporo, Japan.

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder whose causative gene encodes the fatty aldehyde dehydrogenase ALDH3A2. To date, the detailed molecular mechanism of the skin pathology of SLS has remained largely unclear. We generated double-knockout (DKO) mice for and its homolog (a pseudogene in humans). Read More

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September 2021

Sjögren-Larsson syndrome in Spain: Description of three new cases.

An Pediatr (Engl Ed) 2021 Sep 31;95(3):203-204. Epub 2021 Jul 31.

Servicio de Pediatría, Hospital Clínico Universitario de Valencia, Valencia, Spain.

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September 2021

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

J Child Neurol 2021 10 28;36(11):1011-1016. Epub 2021 Jul 28.

Department of Pediatrics, Child Health Research Institute, University of Nebraska Medical Center and Children's Hospital & Medical Center, Omaha, NE, USA.

Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. Read More

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October 2021

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Hum Mutat 2021 08 15;42(8):1015-1029. Epub 2021 Jun 15.

School of Biotechnology, Madurai Kamaraj University, Madurai, India.

Mutations in ALDH3A2 cause Sjögren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified mutations in silico and in vitro, and retrospectively evaluated their role in phenotypic heterogeneity. Interestingly, asymmetric distribution of nonclassical traits was observed in our cases. Read More

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Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity.

Pediatr Neurosurg 2021 16;56(2):163-165. Epub 2021 Mar 16.

Department of Anesthesiology, General Children's Hospital of Athens "Agia Sofia,", Athens, Greece.

Introduction: Study of muscle tone in individuals with severe spasticity (Modified Asworth Scale - MAS:3) under general anesthesia can confirm or rule out the eventual necessity of the impending spasticity relieving ablative neurosurgery by observing the hypertonia reduction and passive range of motion expansion. Therefore, what we measure under muscle relaxants is practically a fixed deformity.

Case Presentation: The study was performed on a girl with Sjögren-Larsson syndrome, presenting with icthyosis and spastic diplegia. Read More

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October 2021

Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.

Hum Genomics 2020 11 9;14(1):41. Epub 2020 Nov 9.

Nutrition Research Institute, University of North Carolina, Chapel Hill, NC, USA.

Background: Mitochondrial folate enzyme ALDH1L2 (aldehyde dehydrogenase 1 family member L2) converts 10-formyltetrahydrofolate to tetrahydrofolate and CO simultaneously producing NADPH. We have recently reported that the lack of the enzyme due to compound heterozygous mutations was associated with neuro-ichthyotic syndrome in a male patient. Here, we address the role of ALDH1L2 in cellular metabolism and highlight the mechanism by which the enzyme regulates lipid oxidation. Read More

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November 2020

Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.

Paediatr Anaesth 2020 12 26;30(12):1390-1395. Epub 2020 Oct 26.

Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA.

Background: Sjögren-Larsson syndrome is a rare inherited neurocutaneous disorder characterized by congenital ichthyosis, spasticity, intellectual disability, seizures, and ophthalmologic changes. Most individuals with Sjögren-Larsson syndrome live well into adulthood and often require surgical intervention to manage their symptomatology.

Aims: The aim of this work was to review the clinical aspects of Sjögren-Larsson syndrome, highlight the unique anesthetic considerations associated with this disease, and provide practical recommendations about anesthetic management. Read More

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December 2020

Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

Mol Genet Genomic Med 2020 11 15;8(11):e1487. Epub 2020 Sep 15.

Taif University, Taif, KSA.

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.

Methods: We report a seven-years-old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth. There were associated with global developmental delay and seizure disorder. Read More

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November 2020

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.

Mol Genet Metab 2020 Sep - Oct;131(1-2):253-258. Epub 2020 Aug 12.

Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center and Children's Hospital & Medical Center, Omaha, NE, USA. Electronic address:

Sjögren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by ichthyosis, spasticity, intellectual disability and deficient oxidation and accumulation of of fatty aldehydes and alcohols. We investigated whether excess fatty alcohols in SLS are diverted into biosynthesis of ether glycerolipids (eGLs) by measuring the 1-O-alkylglycerol (AG) backbone of eGLs in stratum corneum, plasma and red blood cells (RBCs). In all tissues, saturated and monounsaturated AGs were detected. Read More

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Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

J Inherit Metab Dis 2020 11 9;43(6):1265-1278. Epub 2020 Jul 9.

Department of Pediatric Neurology, Radboud university medical center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands.

Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never in brain. Read More

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November 2020

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.

Ophthalmic Genet 2020 08 8;41(4):381-385. Epub 2020 Jun 8.

Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center , Omaha, NE, USA.

Background: Sjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in that results in deficiency of fatty aldehyde dehydrogenase and accumulation of fatty aldehydes and alcohols. The disease is associated with ichthyosis, spasticity, and intellectual disability. Patients exhibit a characteristic retinopathy with macular crystalline inclusions that first appear in early childhood and increase with age. Read More

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Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

JIMD Rep 2020 May 25;53(1):61-70. Epub 2020 Mar 25.

Department of Pediatric Neurology Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour Nijmegen The Netherlands.

Sjögren-Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disability, and spastic diplegia. Read More

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Comprehensive Molecular Profiles of Functionally Effective MSC-Derived Extracellular Vesicles in Immunomodulation.

Mol Ther 2020 07 23;28(7):1628-1644. Epub 2020 Apr 23.

Department of Molecular and Cellular Medicine, Institute for Regenerative Medicine, College of Medicine, Texas A&M University, 1114 TAMU, 206 Olsen Boulevard, College Station, TX 77845, USA. Electronic address:

Accumulating evidence indicates that mesenchymal stem/stromal cell-derived extracellular vesicles (MSC-EVs) exhibit immunomodulatory effects by delivering therapeutic RNAs and proteins; however, the molecular mechanism underlying the EV-mediated immunomodulation is not fully understood. In this study, we found that EVs from early-passage MSCs had better immunomodulatory potency than did EVs from late-passage MSCs in T cell receptor (TCR)- or Toll-like receptor 4 (TLR4)-stimulated splenocytes and in mice with ocular Sjögren's syndrome. Moreover, MSC-EVs were more effective when produced from 3D culture of the cells than from the conventional 2D culture. Read More

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Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.

Adv Protein Chem Struct Biol 2020 4;120:349-377. Epub 2020 Feb 4.

Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar.

Sjögren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. To date, 80 missense mutations have been identified in association with the Aldehyde Dehydrogenase 3 Family Member A2 (ALDH3A2) gene causing SLS. Disruption of the function of ALDH3A2 leads to excessive accumulation of fat in the cells, which interferes with the normal function of protective membranes or materials that are necessary for the body to function normally. Read More

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February 2021

Sjogren-Larsson Syndrome: Mechanisms and Management.

Appl Clin Genet 2020 7;13:13-24. Epub 2020 Jan 7.

TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, NSW, Australia.

Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the that result in a deficiency of fatty aldehyde dehydrogenase (FALDH). The syndrome has a high prevalence in Sweden where it was first described, but now known to occur worldwide. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features. Read More

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January 2020

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Clin Genet 2020 05 9;97(5):770-778. Epub 2020 Feb 9.

Department of Dermatology, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS) through multi-gene panel testing targeting all ichthyosis-related genes. Read More

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Compound heterozygous mutations in the gene cause Sjögren-Larsson syndrome: a case report.

Int J Neurosci 2020 Nov 29;130(11):1156-1160. Epub 2020 Jan 29.

Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272000, China.

Sjögren-Larsson syndrome is a rare, autosomal, recessive neurocutaneous disorder caused by mutations in the gene, which encodes the fatty aldehyde dehydrogenase enzyme. Deficiency in fatty aldehyde dehydrogenase results in an abnormal accumulation of toxic fatty aldehydes in the brain and skin, which cause spasticity, intellectual disability, ichthyosis, and other clinical manifestations. We present the clinical features and mutation analyses of a case of SLS. Read More

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November 2020

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.

J Transl Genet Genom 2020 13;4:429-445. Epub 2020 Nov 13.

Department of Research, Focus Foundation, Crofton, MD 21035, USA.

Many inborn errors of metabolism and genetic disorders affect the brain. The brain biochemistry may differ from that in the periphery and is not accessible by simple blood and urine sampling. Therefore, neuroimaging has proven to be a valuable tool to not only evaluate the brain structure, but also biochemistry, blood flow and function. Read More

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November 2020

Sjogren-Larsson syndrome associated hypermelanosis.

J Cosmet Dermatol 2020 Apr 7;19(4):789-798. Epub 2019 Nov 7.

Department of Developmental Pediatrics, The Second Hospital of Jilin University, Changchun, China.

Background/objectives: Sjogren - Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD-oxidoreductase enzyme complex. This study aimed to access variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis owing to increased oxidative stress and reactive oxygen species resulting in DNA harm in SLS. By turning them into fatty acids, FALDH avoids the accumulation of toxic fatty aldehydes. Read More

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Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.

Ophthalmic Genet 2019 08 12;40(4):298-308. Epub 2019 Sep 12.

Department of Pediatrics and Child Health Research Institute, University of Nebraska Medical Center , Omaha , NE , USA.

: Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual disability. We review the genetic, biochemical and clinical aspects of SLS with a particular focus on the ophthalmologic features of the disease.: Published reports of SLS are combined with clinical experience to provide an overview of this disease. Read More

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Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Arch Dermatol Res 2019 Nov 6;311(9):721-730. Epub 2019 Aug 6.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

Assessment of ten Egyptian patients with Sjögren-Larsson syndrome (SLS) detected; unusual clinical manifestations, a first report of brain atrophy in SLS, some patients exhibited neither retinal dots nor white matter changes previously reported as essential manifestations. We identified five mutations in ALDH3A2 gene including a novel one and suggest a founder effect. Sjögren-Larsson syndrome is a rare autosomal recessive inborn error of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase and result in a triad of ichthyosis, spasticity, and mental retardation. Read More

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November 2019

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

J Hum Genet 2019 Sep 5;64(9):859-865. Epub 2019 Jul 5.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid metabolism caused by biallelic mutations in the ALDH3A2 gene encoding the fatty aldehyde dehydrogenase that plays a pivotal role in metabolism of long-chain aliphatic aldehydes and alcohols. In this report, we describe the clinical, neuro-radiological and molecular findings of 35 patients with SLS. Read More

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September 2019

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Ophthalmol Retina 2019 06 7;3(6):500-509. Epub 2019 Feb 7.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

Purpose: To study long-term macular changes by spectral-domain (SD) OCT in patients with Sjögren-Larsson syndrome (SLS).

Design: Retrospective cohort study.

Participants: Twenty-two patients with genetically proven SLS (12 female, 10 male; median age, 21 years; range, 3-47 years) were included in the study. Read More

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Burden of itch in ichthyosis: a multicentre study in 94 patients.

J Eur Acad Dermatol Venereol 2019 Nov 6;33(11):2095-2100. Epub 2019 May 6.

Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.

Background: From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis.

Objective: The objective of this study was to specifically address the burden of itch and all its dimensions in ichthyosis patients. Read More

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November 2019

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Acta Ophthalmol 2019 Sep 29;97(6):e877-e886. Epub 2019 Mar 29.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Purpose: To identify the accurate clinical diagnosis of rare syndromic inherited retinal diseases (IRDs) based on the combination of clinical and genetic analyses.

Methods: Four unrelated families with various autosomal recessive syndromic inherited retinal diseases were genetically investigated using whole-exome sequencing (WES).

Results: Two affected subjects in family MOL0760 presented with a distinctive combination of short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa (RP). Read More

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September 2019

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

Neuropediatrics 2019 04 4;50(2):89-95. Epub 2019 Jan 4.

Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Amalia Children's Hospital, Department of Pediatric Neurology, Nijmegen, The Netherlands.

Aim: Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking. Read More

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Ciliopathy: Sjögren-Larsson Syndrome.

Adv Exp Med Biol 2018;1085:181-182

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). Read More

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