Research & Literature

Selective dorsal rhizotomy for spastic diplegia secondary to stroke in an adult patient.

Eppinger MA, Berman CM, Mazzola CA

Surgical neurology international 2015; (6()):111 doi:10.4103/2152-7806.159382.

Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.

Roy U, Das U, Pandit A, Debnath A

BMJ case reports 2016; (2016()):10.1136/bcr-2016-215110.

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Rizzo WB

Expert opinion on orphan drugs 2016; (4(4)):395-406 doi:10.1517/21678707.2016.1154453.

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

Hidalgo ET, Orillac C, Hersh A, et al.

Journal of child neurology 2017; (32(1)):100-103 doi:10.1177/0883073816671440.

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH, Shim SH, Kim M

Clinical genetics 2018; (93(4)):721-730 doi:10.1111/cge.13058.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

Staps P, Hogeveen M, Fuijkschot J, et al.

Journal of perinatal medicine 2018; (46(5)):523-529 doi:10.1515/jpm-2017-0187.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A, Barzgar M, Bozorgmehr B, et al.

European journal of medical genetics 2018; (61(3)):139-144 doi:10.1016/j.ejmg.2017.11.006.

Sjögren-Larsson syndrome: definitive diagnosis on magnetic resonance spectroscopy.

Poojary S, Shah M

Cutis 2017; (100(6)):452-455.

Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.

Vural S, Vural A, Akçimen F, et al.

International journal of dermatology 2018; (57(7)):843-848 doi:10.1111/ijd.14013.

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

Cho KH, Shim SH, Jung Y, et al.

BMC medical genetics 2018; (19(1)):152 doi:10.1186/s12881-018-0663-0.

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Weustenfeld M, Eidelpes R, Schmuth M, et al.

Human mutation 2019; (40(2)):177-186 doi:10.1002/humu.23679.

[Sjögren-Larsson syndrome: Pediatric case report].

García-Ortiz L, Gómez-López R, Rivera-Pedroza CI, et al.

Archivos argentinos de pediatria 2018; (116(6)):e773-e777 doi:10.5546/aap.2018.e773.

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

Staps P, de Groot IJM, van Gerven MHJC, Willemsen MAAP

Neuropediatrics 2019; (50(2)):89-95 doi:10.1055/s-0038-1676854.

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

Staps P, Cruysberg JRM, Roeleveld N, et al.

Ophthalmology. Retina 2019; (3(6)):500-509 doi:10.1016/j.oret.2019.01.023.

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

Abdel-Hamid MS, Issa MY, Elbendary HM, et al.

Journal of human genetics 2019; (64(9)):859-865 doi:10.1038/s10038-019-0637-x.

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

Amr K, El-Bassyouni HT, Ismail S, et al.

Archives of dermatological research 2019; (311(9)):721-730 doi:10.1007/s00403-019-01953-6.

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

Fouzdar-Jain S, Suh DW, Rizzo WB

Ophthalmic genetics 2019; (40(4)):298-308 doi:10.1080/13816810.2019.1660379.

Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.

Liu YD, Lin HJ, Li CY, et al.

The International journal of neuroscience 2020; (130(11)):1156-1160 doi:10.1080/00207454.2020.1716750.

Sjogren-Larsson Syndrome: Mechanisms and Management.

Bindu PS

The application of clinical genetics 2020; (13()):13-24 doi:10.2147/TACG.S193969.

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

Udhaya Kumar S, Thirumal Kumar D, Mandal PD, et al.

Advances in protein chemistry and structural biology 2020; (120()):349-377 doi:10.1016/bs.apcsb.2019.11.004.

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

Staps P, van Gaalen J, van Domburg P, et al.

JIMD reports 2020; (53(1)):61-70 doi:10.1002/jmd2.12099.

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

Al-Holou SN, Siefker E, Fouzdar-Jain S, et al.

Ophthalmic genetics 2020; (41(4)):381-385 doi:10.1080/13816810.2020.1776340.

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

Staps P, Rizzo WB, Vaz FM, et al.

Journal of inherited metabolic disease 2020; (43(6)):1265-1278 doi:10.1002/jimd.12275.

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

Abidi KT, Kamal NM, Bakkar A AA, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1487 doi:10.1002/mgg3.1487.

Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.

Franzen MH, LeRiger MM, Pellegrino KP, et al.

Paediatric anaesthesia 2020; (30(12)):1390-1395 doi:10.1111/pan.14034.

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

Georgoulis G, Dinopoulos A, Gkliatis E

Pediatric neurosurgery 2021; (56(2)):163-165 doi:10.1159/000514329.

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Warrack S, Love T, Rizzo WB

Journal of child neurology 2021; (36(11)):1011-1016 doi:10.1177/08830738211029390.

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

Nojiri K, Fudetani S, Arai A, et al.

Molecular and cellular biology 2021; (41(10)):e0035221 doi:10.1128/MCB.00352-21.

Infantile onset ascending hereditary spastic paralysis.

Eltoum A, O'Rourke D, Sharif F

BMJ case reports 2022; (15(1)) doi:10.1136/bcr-2020-240941.

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

Rizzo WB, S'aulis D, Dorwart E, Bailey Z

Molecular genetics and metabolism reports 2022; (30()):100839 doi:10.1016/j.ymgmr.2021.100839.

Small touches to big walks -the impact of rehabilitation on Sjögren-Larsson syndrome: A case report.

Yolcu G, Huseynli L, Kenis-Coskun O, Karadag-Saygi E

Journal of pediatric rehabilitation medicine 2022; (15(3)):533-537 doi:10.3233/PRM-201521.

Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.

Arai A, Takeichi T, Wakamoto H, et al.

Journal of dermatological science 2022; (107(3)):114-122 doi:10.1016/j.jdermsci.2022.08.003.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

J SK, Waheed MD, Batool S, et al.

Cureus 2023; (15(2)):e35159 doi:10.7759/cureus.35159.

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature.

Lambert LH, Shaikh N, Marx JL, Ramsey DJ

Therapeutic advances in rare disease 2022; (3()):26330040221122496 doi:10.1177/26330040221122496.

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Vaz FM, Staps P, van Klinken JB, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2024; (1869(2)):159447 doi:10.1016/j.bbalip.2023.159447.

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

Yamaguchi Y, Okuno H, Tokuoka S, et al.

Congenital anomalies 2025; (65(1)):e12587 doi:10.1111/cga.12587.

Ciliopathy: Sjögren-Larsson Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2025; (1467()):195-196 doi:10.1007/978-3-031-72230-1_36.

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome.

Gallagher K, Yousif R, Hummel K, Paller AS

Pediatric dermatology 2025; doi:10.1111/pde.70073.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

Asahi Y, Omichi S, Tsukamoto H, et al.

Anesthesia progress 2026; (73(1)):44-47 doi:10.2344/24-0053.