The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-Syndrome)

Dreyer, M.; Rüdiger, H. W.; Bujara, K.; Herberhold, C.; Kühnau, J; Maack, P.; Bartelheimer, H

doi:10.1007/bf01720362

Cited by 24 publications

(17 citation statements)

References 20 publications

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“…[137][138][139][140][141][142][143][144] Most cases have been classified as sporadic or recessively inherited. The hallmark of all these cases is the association of juvenile diabetes mellitus and progressive visual loss with optic atrophy, almost always associated with diabetes insipidus, neurosensory hearing loss, or both (hence, the eponym DIDMOAD for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).…”

Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

“…Atonia of the efferent urinary tract is present in 46-58% of patients and is associated with recurrent urinary tract infections and even fatal complications. 138,139 Other systemic and neurologic abnormalities include ataxia, axial rigidity, seizures, startle myoclonus, tremor, gastrointestinal dysmotility, vestibular malfunction, central apnea, neurogenic upper airway collapse, ptosis, cataracts, pigmentary retinopathy, iritis, lacrimal hyposecretion, tonic pupil, ophthalmoplegia, convergence insufficiency, vertical gaze palsy, mental retardation, psychiatric abnormalities, nystagmus, short stature, primary gonadal atrophy, other endocrine abnormalities, anosmia, megaloblastic and sideroblastic anaemia, abnormal electroretinography, and elevated cerebrospinal fluid protein. 137,139,140,[143][144][145] Psychiatric disorders are also seen at an increased frequency among heterozygous carriers.…”

Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

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Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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Aims To provide a clinical update on the hereditary optic neuropathies. Methods Review of the literature. Results The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. Conclusion The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

Section: Other Monosymptomatic Hereditary Optic Neuropathiesmentioning

confidence: 99%

Hereditary optic neuropathies

Newman

Biousse

2004

Eye

151

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“…[1][2][3] In WS homozygous patients, the pleiotropic effects caused by Wolframin mutations include psychiatric symptoms such as paranoid delusions, severe depression, attempted suicide and violent behavior. 4 An increase in psychiatric disorders was observed in 36 families with Wolfram syndrome.…”

Section: Introductionmentioning

confidence: 99%

Mutation screening of the Wolfram syndrome gene in psychiatric patients

Torres

Leroy

Hu³

et al. 2000

Mol Psychiatry

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Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. It was later demonstrated that Wolfram syndrome patients were highly prone to psychiatric disorders. Mutations in exon 8 of the Wolfram syndrome gene account for 88% of the patients with Wolfram syndrome. To examine whether the gene responsible for causing Wolfram syndrome is involved in psychiatric disorders, we screened exon 8 of the Wolfram syndrome gene for mutations in 119 patients with schizophrenia, one patient with schizoaffective disorder, 12 patients with bipolar disorder and 15 patients with major depression, using sequence analysis. In Wolfram syndrome patients, this gene has been shown to have primarily nonsense or frameshift mutations, which would result in a premature truncation of the protein. None of the psychiatric patients screened in this study carried these types of mutations. We identified, however, 24 new variations whose significance remains to be determined. Molecular Psychiatry (2001) 6, 39-43.

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“…A prevalên-cia de perda auditiva ou audiograma anormal tem sido reportada entre 39 a 100% (3,15,18), sendo, porém, clinicamente evidente em apenas 12% dos casos. A perda auditiva inicia-se nas três primeiras décadas de vida, é progressiva, mas poucos pacientes tornam-se completamente surdos (19). Muitos pacientes se beneficiam de próteses auditivas.…”

Section: Surdezunclassified

“…Alguns autores atribuem a dilatação das vias urinárias ao fluxo aumentado devido ao diabetes insipidus e melhora dessa condição com o uso de hormônio antidiurético (23). Entretanto, há varias descrições de SW com dilatação das vias urinárias sem a presença de diabetes insipidus, indicando ser essa condição resultante primariamente de uma degeneração neural (10,11,19). Chu e cols.…”

Section: Anormalidades Do Trato Urináriounclassified

Síndrome de Wolfram: da definição às bases moleculares

Ribeiro¹,

Crispim²,

Vendramini³

et al. 2006

Arq Bras Endocrinol Metab

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RESUMOA síndrome de Wolfram (SW) é uma condição neurodegenerativa progressiva de herança autossômica recessiva caracterizada pela presença de diabetes mellitus e atrofia óptica. Freqüentemente também estão presentes o diabetes insipidus e disacusia neurossensorial, explicando o acrô-nimo DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) pelo qual a síndrome é também conhecida. Além desses, outros comemorativos tais como bexiga neurogênica, ataxia, nistagmo e predisposição a doenças psiquiátricas podem também estar presentes. Em 1994 identificou-se no cromossomo 4p16.1 um dos genes responsáveis pela SW, que foi denominado WFS1 ou wolframina. Esse gene codifica uma proteí-na de 890 aminoácidos de localização no retículo endoplasmático. A função da proteína wolframina ainda não está completamente definida, porém sua localização no retículo endoplasmático sugere um papel na regulação da homeostase do cálcio, transporte de membrana ou processamento protéico. O entendimento de como alterações na função da wolframina resultam em diabetes e neurodegeneração é essencial para o desenvolvimento de terapias para prevenir ou atenuar as conseqüências da SW. Wolfram syndrome (WS) is an autosomal recessive progressive neurodegenerative disorder characterized by diabetes mellitus and optic atrophy. Diabetes insipidus and sensorineural deafness are also noted frequently, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) by which the syndrome is also referred. Additional manifestations such as atonic bladder, ataxia, nystagmus and predisposition for psychiatric illness may be present. The Wolfram syndrome gene, WFS1, was mapped to chromosome 4p16.1 by positional cloning. It encodes an 890-amino-acid polypeptide named wolframin. Although the wolframin function is still not completely known, its localization to the endoplasmic reticulum suggests it can play a role in calcium homeostasis, membrane trafficking and protein processing. Knowing the cellular function of wolframin is necessary for understanding the pathophysiology of Wolfram syndrome. This knowledge may lead to development of therapies to prevent or reduce the outcomes of WS.

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The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-Syndrome)

Cited by 24 publications

References 20 publications

Hereditary optic neuropathies

Hereditary optic neuropathies

Mutation screening of the Wolfram syndrome gene in psychiatric patients

Síndrome de Wolfram: da definição às bases moleculares

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