Research & Literature

Selective cognitive and psychiatric manifestations in Wolfram Syndrome.

Bischoff AN, Reiersen AM, Buttlaire A, et al.

Orphanet journal of rare diseases 2015; (10()):66 doi:10.1186/s13023-015-0282-1.

A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.

Paris LP, Usui Y, Serino J, et al.

Journal of diabetes & metabolism 2015; (6(7)):1-5 doi:10.4172/2155-6156.1000561.

Wolfram Syndrome. Case report.

Tarała W, Drachal E, Mazur A, et al.

Pediatric endocrinology, diabetes, and metabolism 2016; (22(1)):39-42 doi:10.18544/PEDM-22.01.0049.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Rouzier C, Moore D, Delorme C, et al.

Human molecular genetics 2017; (26(9)):1599-1611 doi:10.1093/hmg/ddx060.

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E, Flanagan SE, Yagi T, et al.

Diabetes 2017; (66(7)):2044-2053 doi:10.2337/db16-1296.

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Cattaneo M, La Sala L, Rondinelli M, et al.

BMC medical genetics 2017; (18(1)):147 doi:10.1186/s12881-017-0508-2.

Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

Wragg R, Dias RP, Barrett T, McCarthy L

Journal of pediatric surgery 2018; (53(2)):321-325 doi:10.1016/j.jpedsurg.2017.11.025.

Natural history and clinical characteristics of 50 patients with Wolfram syndrome.

Bueno GE, Ruiz-Castañeda D, Martínez JR, et al.

Endocrine 2018; (61(3)):440-446 doi:10.1007/s12020-018-1608-2.

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.

Rigoli L, Bramanti P, Di Bella C, De Luca F

Pediatric research 2018; (83(5)):921-929 doi:10.1038/pr.2018.17.

Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome.

Rove KO, Vricella GJ, Hershey T, et al.

The Journal of urology 2018; (200(5)):1107-1113 doi:10.1016/j.juro.2018.06.002.

Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.

Bansal V, Boehm BO, Darvasi A

Diabetologia 2018; (61(10)):2180-2188 doi:10.1007/s00125-018-4690-3.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

Soares A, Mota Á, Fonseca S, et al.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2019; (241(2)):116-119 doi:10.1159/000490535.

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

Ustaoglu M, Onder F, Karapapak M, et al.

European journal of ophthalmology 2020; (30(5)):1099-1105 doi:10.1177/1120672119842489.

Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.

Pourreza MR, Sobhani M, Rahimi A, et al.

Acta diabetologica 2020; (57(1)):81-87 doi:10.1007/s00592-019-01381-y.

Sleep disturbances in Wolfram syndrome.

Licis A, Davis G, Eisenstein SA, et al.

Orphanet journal of rare diseases 2019; (14(1)):188 doi:10.1186/s13023-019-1160-z.

[Urinary disorders of Wolfram syndrome. Clinical and urodynamic analysis from 6 observations].

Leroux C, Grasland M, Turmel N, et al.

Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie 2020; (30(4)):205-208 doi:10.1016/j.purol.2019.10.008.

Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival.

Abreu D, Asada R, Revilla JMP, et al.

Laboratory investigation; a journal of technical methods and pathology 2020; (100(6)):849-862 doi:10.1038/s41374-020-0408-5.

Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.

Batjargal K, Tajima T, Jimbo EF, Yamagata T

Journal of endocrinological investigation 2020; (43(9)):1317-1325 doi:10.1007/s40618-020-01228-2.

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Das L, Rai A, Mavuduru R, et al.

Endocrine 2020; (69(2)):420-429 doi:10.1007/s12020-020-02320-6.

Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.

Samara A, Lugar HM, Hershey T, Shimony JS

AJNR. American journal of neuroradiology 2020; (41(12)):2364-2369 doi:10.3174/ajnr.A6831.

Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.

Reschke F, Rohayem J, Maffei P, et al.

Endocrine 2021; (71(3)):626-633 doi:10.1007/s12020-021-02622-3.

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Delvecchio M, Iacoviello M, Pantaleo A, Resta N

International journal of environmental research and public health 2021; (18(9)) doi:10.3390/ijerph18094796.

A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.

Abreu D, Stone SI, Pearson TS, et al.

JCI insight 2021; (6(15)).

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

Ren Z, Yi J, Zhong M, et al.

BMC endocrine disorders 2021; (21(1)):166 doi:10.1186/s12902-021-00823-5.

[Central control malfunction in Wolfram syndrome: Report of one case of difficult weaning].

Gauvrit M, Jaffré S, Morin J, et al.

Revue des maladies respiratoires 2021; (38(9)):946-950 doi:10.1016/j.rmr.2021.09.007.

Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.

Ray MK, Chen L, White NH, et al.

Pediatric diabetes 2022; (23(2)):212-218 doi:10.1111/pedi.13291.

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients.

Frontino G, Raouf T, Canarutto D, et al.

Frontiers in pediatrics 2021; (9()):755365 doi:10.3389/fped.2021.755365.

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Salzano G, Rigoli L, Valenzise M, et al.

International journal of environmental research and public health 2022; (19(1)) doi:10.3390/ijerph19010520.

WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.

Chapla A, Johnson J, Korula S, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(5)):1328-1336 doi:10.1210/clinem/dgac002.

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.

Rosanio FM, Di Candia F, Occhiati L, et al.

International journal of environmental research and public health 2022; (19(2)) doi:10.3390/ijerph19020835.

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.

Lee J, Iwasaki T, Kaida T, et al.

American journal of ophthalmology case reports 2022; (25()):101315 doi:10.1016/j.ajoc.2022.101315.

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.

Morikawa S, Blacher L, Onwumere C, Urano F

Frontiers in endocrinology 2022; (13()):849204 doi:10.3389/fendo.2022.849204.

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

Majander A, Jurkute N, Burté F, et al.

American journal of ophthalmology 2022; (241()):9-27 doi:10.1016/j.ajo.2022.04.003.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R, Hizem S, Kammoun I, et al.

Ophthalmic genetics 2023; (44(3)):304-312 doi:10.1080/13816810.2022.2113546.

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Zhang X, Xie Y, Xu K, et al.

Investigative ophthalmology & visual science 2022; (63(10)):9 doi:10.1167/iovs.63.10.9.

Psychiatric Diagnoses and Medications in Wolfram Syndrome.

Reiersen AM, Noel JS, Doty T, et al.

Scandinavian journal of child and adolescent psychiatry and psychology 2022; (10(1)):163-174 doi:10.2478/sjcapp-2022-0017.

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.

de Muijnck C, Brink JBT, Bergen AA, et al.

Survey of ophthalmology 2023; (68(4)):641-654 doi:10.1016/j.survophthal.2023.01.012.

Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.

Mirfazeli FS, Mohebi F, Jahanbakhshi A, et al.

Basic and clinical neuroscience 2022; (13(6)):893-900 doi:10.32598/bcn.2021.910.3.

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.

Sahli M, Zrhidri A, Boualaoui I, et al.

Journal of medical case reports 2023; (17(1)):409 doi:10.1186/s13256-023-04150-2.

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness.

Carvalho MM, Jesus R, Mendes A, et al.

Cureus 2023; (15(10)):e46426 doi:10.7759/cureus.46426.

An adolescent with Wolfram syndrome and central sleep apnea.

Harris JC, Kenkare JD, Schramm CM

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2024; (20(7)):1205-1208 doi:10.5664/jcsm.11110.

An adolescent male with persistent urinary symptoms.

Saha S, Sinha R

Pediatric nephrology (Berlin, Germany) 2024; (39(11)):3209-3211 doi:10.1007/s00467-024-06424-3.

ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome.

Liiv M, Vaarmann A, Safiulina D, et al.

Nature communications 2024; (15(1)):6143 doi:10.1038/s41467-024-50502-x.

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.

Jurca AD, Galea-Holhos LB, Jurca AA, et al.

Medicina (Kaunas, Lithuania) 2024; (60(7)) doi:10.3390/medicina60071064.

Continuous glycemic monitoring in managing diabetes in adult patients with wolfram syndrome.

Zmysłowska A, Grzybowska-Adamowicz J, Michalak A, et al.

Acta diabetologica 2024; (61(10)):1333-1338 doi:10.1007/s00592-024-02350-w.

Beyond Vision and Hearing: A Case Report of Wolfram Syndrome.

U J, Santhanam J, Rm R, et al.

Cureus 2024; (16(7)):e65107 doi:10.7759/cureus.65107.

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.

Caruso V, Raia A, Rigoli L

Genes 2024; (15(8)) doi:10.3390/genes15080984.

Images in sleep medicine sleep-disordered breathing in Wolfram's syndrome - A near-fatal event.

Serino M, Amorim P, Pimentel A, et al.

Sleep medicine 2024; (124()):106-109 doi:10.1016/j.sleep.2024.09.012.

Early presentation of urological abnormalities in a case of Wolfram syndrome.

Lalwani S, Shekhawat VS, Nachankar A, Dwivedi A

BMJ case reports 2024; (17(9)) doi:10.1136/bcr-2024-260822.

Cochlear implant in Wolfram syndrome: A case report.

Marfatia H, Rattan A, Jain A

Cochlear implants international 2024; (25(6)):487-491 doi:10.1080/14670100.2024.2442826.

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

Otsuka S, Morimoto C, Nishio SY, et al.

Genes 2025; (16(1)) doi:10.3390/genes16010057.

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial.

Dias RP, Brock K, Hu K, et al.

BMJ open 2025; (15(2)):e091495 doi:10.1136/bmjopen-2024-091495.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Roberts JP, Tang AF, Hernandez D, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.02.23.25322342.

Reciprocal rescue of Wolfram syndrome by two causative genes.

Ham SJ, Yoon E, Lee DH, et al.

EMBO reports 2025; (26(9)):2459-2482.

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

Rohayem J, Cunningham O, Williams D, et al.

Andrology 2026; (14(2)):398-410 doi:10.1111/andr.70049.

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.

Echcharii N, Chekhlabi N, Haoudar A, Dini N

Cureus 2025; (17(5)):e83594 doi:10.7759/cureus.83594.

A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual.

Meisel M, Berkowitz E, Irge D, et al.

American journal of ophthalmology case reports 2025; (39()):102354 doi:10.1016/j.ajoc.2025.102354.

The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants.

Papageorgiou E, Toumasis PN, Tsezou A, et al.

Diabetes & metabolism 2025; (51(5)):101676 doi:10.1016/j.diabet.2025.101676.

WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

Gao AM, Deng WL, Yang XP, et al.

World journal of diabetes 2025; (16(8)):108946 doi:10.4239/wjd.v16.i8.108946.

CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.

Loncke J, de Ridder I, La Rovere R, et al.

Acta neuropathologica communications 2025; (13(1)):242 doi:10.1186/s40478-025-02132-7.

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Kan W, Wang Y, Xue Y, et al.

Frontiers in endocrinology 2025; (16()):1743282 doi:10.3389/fendo.2025.1743282.

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

Bazhar H, Loubna M, Bouslous N, Omar M

Cureus 2026; (18(1)):e101313 doi:10.7759/cureus.101313.

Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients.

Lee L, Tang AF, Asako A, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.03.31.26349885.

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Roberts JP, Tang AF, Hernandez D, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome.

Urano F, Marshall BA, Hurst S, et al.

The Journal of clinical investigation 2026; (136(10)).

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy.

L'Amie A, Vincent AL, Jefferies CA, et al.

Diabetic medicine : a journal of the British Diabetic Association 2026; (43(8)):e70405 doi:10.1111/dme.70405.

Revision of diagnosis in a child with type 1 diabetes mellitus due to appropriate genetic testing - Wolfram Syndrome.

Varghis JS, Francis AK, Pratheeksh RJ, Finny P

BMJ case reports 2026; (19(7)) doi:10.1136/bcr-2025-267549.

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.

Elliott J, Ahmadi S, Yu-Wai-Man P, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.07.02.26357130.

Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients.

Lee LA, Tang AF, Asako AE, et al.

Frontiers in endocrinology 2026; (17()):1847818 doi:10.3389/fendo.2026.1847818.