Research & Literature

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

Blanco-Aguirre ME, la Parra DR, Tapia-Garcia H, et al.

Gene 2015; (566(1)):63-7.

Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.

Zmyslowska A, Fendler W, Szadkowska A, et al.

Acta diabetologica 2015; (52(6)):1057-62 doi:10.1007/s00592-015-0757-5.

Wolfram Syndrome: Diagnosis, Management, and Treatment.

Urano F

Current diabetes reports 2016; (16(1)):6 doi:10.1007/s11892-015-0702-6.

Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.

Xavier J, Bourvis N, Tanet A, et al.

Journal of child and adolescent psychopharmacology 2016; (26(8)):750-755 doi:10.1089/cap.2015.0241.

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.

Cagalinec M, Liiv M, Hodurova Z, et al.

PLoS biology 2016; (14(7)):e1002511 doi:10.1371/journal.pbio.1002511.

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.

Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

Zmyslowska A, Fendler W, Waszczykowska A, et al.

Acta diabetologica 2017; (54(11)):1019-1024 doi:10.1007/s00592-017-1042-6.

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.

Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression.

Hoekel J, Narayanan A, Rutlin J, et al.

BMJ open ophthalmology 2018; (3(1)):e000081 doi:10.1136/bmjophth-2017-000081.

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.

Understanding activity participation among individuals with Wolfram Syndrome.

Bumpus E, Hershey T, Doty T, et al.

The British journal of occupational therapy 2018; (81(6)):348-357 doi:10.1177/0308022618757182.

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.

Longitudinal hearing loss in Wolfram syndrome.

Karzon R, Narayanan A, Chen L, et al.

Orphanet journal of rare diseases 2018; (13(1)):102 doi:10.1186/s13023-018-0852-0.

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.

Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry.

Lugar HM, Koller JM, Rutlin J, et al.

Scientific reports 2019; (9(1)):6010 doi:10.1038/s41598-019-42447-9.

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

Rigoli L, Aloi C, Salina A, et al.

Pediatric research 2020; (87(3)):456-462 doi:10.1038/s41390-019-0487-4.

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.

Management of central diabetes insipidus.

Garrahy A, Thompson CJ

Best practice & research. Clinical endocrinology & metabolism 2020; (34(5)):101385 doi:10.1016/j.beem.2020.101385.

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.

Use of Desmopressin in Hyponatremia: Foe and Friend.

Achinger SG, Ayus JC

Kidney medicine 2019; (1(2)):65-70 doi:10.1016/j.xkme.2019.02.002.

Management of transient central diabetes insipidus with intravenous desmopressin in a premature infant with gastroschisis and septo-optic dysplasia: A case report.

Kim F, Towers HM

Journal of neonatal-perinatal medicine 2021; (14(2)):293-297 doi:10.3233/NPM-200465.

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.

Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Rescued by Fludrocortisone Treatment.

Kleanthous K, Maratou E, Spyropoulou D, et al.

Indian journal of pediatrics 2021; (88(6)):582-585 doi:10.1007/s12098-020-03538-y.

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.

Wolfram syndrome: Portuguese research.

Ferreras C, Gorito V, Pedro J, et al.

Endokrynologia Polska 2021; (72(4)):353-356 doi:10.5603/EP.a2021.0038.

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)).

ENDOCRINOLOGY IN THE TIME OF COVID-19-2021 UPDATES: The management of diabetes insipidus and hyponatraemia.

Christ-Crain M, Hoorn EJ, Sherlock M, et al.

European journal of endocrinology 2021; (185(4)):G35-G42.

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.

Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.

La Valle A, Piccolo G, Maghnie M, d'Annunzio G

International journal of environmental research and public health 2021; (18(22)) doi:10.3390/ijerph182211994.

WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.

Wang L, Liu H, Zhang X, et al.

Nature communications 2021; (12(1)):6996 doi:10.1038/s41467-021-27344-y.

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.

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.

Crouzier L, Richard EM, Diez C, et al.

Human molecular genetics 2022; (31(16)):2711-2727 doi:10.1093/hmg/ddac065.

The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.

Barboni P, Amore G, Cascavilla ML, et al.

American journal of ophthalmology 2022; (241()):206-216 doi:10.1016/j.ajo.2022.03.019.

Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.

O'Bryhim BE, Samara A, Chen L, et al.

American journal of ophthalmology 2022; (243()):10-18 doi:10.1016/j.ajo.2022.07.003.

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.

Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus.

Dubinski I, Bechtold-Dalla Pozza S, Schmidt H

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(12)):1544-1546 doi:10.1515/jpem-2022-0422.

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Harsunen M, Kettunen JLT, Härkönen T, et al.

Diabetologia 2023; (66(3)):438-449 doi:10.1007/s00125-022-05834-y.

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.

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

Lim HD, Lee SM, Yun YJ, et al.

BMC medical genomics 2023; (16(1)):79 doi:10.1186/s12920-023-01506-x.

Wolfram syndrome: new pathophysiological insights and therapeutic strategies.

Mishra R, Chen BS, Richa P, Yu-Wai-Man P

Therapeutic advances in rare disease 2021; (2()):26330040211039518 doi:10.1177/26330040211039518.

Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump.

Cardona M, Ardila A, Gómez JD, Román-González A

AACE clinical case reports 2023; (9(4)):125-127 doi:10.1016/j.aace.2023.05.002.

The therapeutic effect of oral desmopressin lyophilisate formulation in children with central diabetes insipidus.

Korkmaz HA, Coşkunol F, Barışık V, Ozkan B

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(10)):925-929 doi:10.1515/jpem-2023-0203.

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.

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.

Menon JC, Singh P, Archana A, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(3)):e1072-e1082 doi:10.1210/clinem/dgad644.

ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models.

Hu R, Chen X, Su Q, et al.

Cell death and differentiation 2024; (31(3)):322-334 doi:10.1038/s41418-024-01258-w.

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.

Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities.

Dange NS, Shah N, Oza C, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(5)):434-440 doi:10.1515/jpem-2023-0531.

Arginine vasopressin deficiency: diagnosis, management and the relevance of oxytocin deficiency.

Atila C, Refardt J, Christ-Crain M

Nature reviews. Endocrinology 2024; (20(8)):487-500 doi:10.1038/s41574-024-00985-x.

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.

Novel WFS1 variants are associated with different diabetes phenotypes.

Wu L, Zhang J, Li D, et al.

Frontiers in genetics 2024; (15()):1433060 doi:10.3389/fgene.2024.1433060.

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.

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

Frontino G, Delvecchio M, Prudente S, et al.

Journal of endocrinological investigation 2025; (48(3)):507-525 doi:10.1007/s40618-024-02495-z.

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.

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population.

Halabi I, Tenenbaum-Rakover Y, Sagi-Dain L, Koren I

Frontiers in pediatrics 2025; (13()):1525846 doi:10.3389/fped.2025.1525846.

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.

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.

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.

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

Caretto A, Scarascia Mugnozza F, Valsecchi F, et al.

Frontiers in medicine 2025; (12()):1639884 doi:10.3389/fmed.2025.1639884.

Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.

Reschke F, Ernst G, Kordonouri O, et al.

Endocrine connections 2025; (14(11)).

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.

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.

Esteban-Bueno G, Botella LM, Fernández-Martínez JL

Diagnostics (Basel, Switzerland) 2025; (15(24)) doi:10.3390/diagnostics15243213.

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.

WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome.

Jagodzinska J, Péquignot M, Sarzi E, et al.

Acta neuropathologica communications 2026; (14(1)).

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)).

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.