Wolfram syndrome

Megighian, D; Savastano, Marina

doi:10.1016/j.ijporl.2003.10.012

Cited by 14 publications

(9 citation statements)

References 23 publications

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“…Our finding that profound bilateral vestibular loss was not common is typical of patients with WS (Higashi 1991; Pennings et al 2004; Megighian and Savastano 2004). Hilson et al (2009) reported temporal bone evidence for hair cell loss in the basal turn of the cochlea, typical of high-frequency hearing loss, but intact vestibular sense organs.…”

Section: Discussionsupporting

confidence: 57%

Audiologic and Vestibular Findings in Wolfram Syndrome

Karzon

Hullar

2013

Ear &Amp; Hearing

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Context Clinical manifestations of Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disease, include diabetes mellitus (DM), optic nerve atrophy (OA), diabetes insipidus (DI) and sensorineural hearing loss (SNHL). Objective Assessment of auditory and vestibular function in WS patients using a standardized protocol. Design Prospective cohort study of 11 patients using otoscopic inspection, tympanometry, otoacoustic emissions, pure tones, speech in noise, the speech intelligibility index and rotational chair testing. Results Mean SNHL diagnosis was 7.3 years with 55% prevalence. Four patients with a Speech Intelligibility Index (SII) less than 0.75 (better ear) routinely used bilateral amplification devices. Two patients with normal hearing sensitivity exhibited abnormal speech in noise (SIN) scores. The only patient with significant vestibular dysfunction also had a distinctive low frequency component to her SNHL. Conclusions Hearing loss may occur earlier than previously suspected and comprehensive testing including speech in noise testing may reveal deficits not apparent with pure tone testing. Particular configurations of hearing loss may indicate a need for comprehensive vestibular assessment. Because SNHL can be the first symptom of WS, audiologists and otolaryngologists should be vigilant about referring patients with hearing loss for ophthalmologic examination.

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Section: Discussionsupporting

confidence: 57%

Audiologic and Vestibular Findings in Wolfram Syndrome

Karzon

Hullar

2013

Ear &Amp; Hearing

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“…Also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome, :/60% of Wolfram syndrome patients also exhibit sensorineural HL, as well as renal tract abnormalities and multiple neurological disorders [18]. Notably, the hearing impairment in DFNA6/14 patients is characterized by LFSNHL, whereas patients with Wolfram syndrome typically exhibit high-frequency SNHL [19].…”

Section: Discussionmentioning

confidence: 99%

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

Noguchi¹,

Yashima²,

Hatanaka³

et al. 2005

Acta Oto-Laryngologica

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One patient carried a heterozygous G2700A mutation at codon 844 in exon 8, resulting in substitution of a threonine for an alanine (A844T). Genetic analysis of the available members of the patient's family showed that the A844T mutation segregated with LFSNHL, but was not detected in any of 140 control chromosomes. It thus appears likely that the A844T mutation is causative for hearing loss in this group. Speech audiometry, self-recording audiometry and auditory brainstem responses showed the patient to have cochlear deafness without retrocochlear dysfunction. No mutation was found in the other two patients.

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“…O início da diminuição da acuidade visual ocorre em geral na segunda década de vida, com idade média de 14 anos (11). O exame oftalmológico mostra palidez do nervo óptico com aumento do reflexo das artérias retinianas e angiofluoresceinografia e eletrorretinografia de campo geralmente normais.…”

Section: Atrofia óPticaunclassified

“…Os registros de potenciais visuais evocados revelam comprometimento na via máculo-occiptal (12). Estudo anátomo-patológico demonstra destruição axonal e desmielinização em todo o sistema óptico (11,13). Outras alterações oculares menos freqüentes são catarata, distúrbios da visão de cor, anormalidades pupilares, miopia, alterações do epitélio pigmentar da retina, nistagmo, perda de campo visual e glaucoma (7,9,12,14,15).…”

Section: Atrofia óPticaunclassified

“…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

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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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Wolfram syndrome

Cited by 14 publications

References 23 publications

Audiologic and Vestibular Findings in Wolfram Syndrome

Audiologic and Vestibular Findings in Wolfram Syndrome

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

Síndrome de Wolfram: da definição às bases moleculares

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