Wolfram syndrome, also referred to as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD), is a rare autosomal recessive neurodegenerative disorder. Affected individuals had childhood insulin-requiring non-autoimmune diabetes mellitus and bilateral progressive optic atrophy, usually occurring during the first and second decade of life, respectively. Neurological clinical features include sensorineural hearing loss (slowly progressive high-frequency deafness), ataxia, dementia and psychiatric disease; olfactory defects are also frequent; central apnoea is a common cause of mortality. Further, neuronal degeneration might be involved in gastrointestinal dysmotility and a number of urinary tract dysfunctions (hydroureter, detrusor-sphincter dyssynergia, detrusor overactivity, urinary tract atony).

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

NOVARA, FRANCESCA;ZUFFARDI, ORSETTA;
2014

Abstract

Wolfram syndrome, also referred to as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD), is a rare autosomal recessive neurodegenerative disorder. Affected individuals had childhood insulin-requiring non-autoimmune diabetes mellitus and bilateral progressive optic atrophy, usually occurring during the first and second decade of life, respectively. Neurological clinical features include sensorineural hearing loss (slowly progressive high-frequency deafness), ataxia, dementia and psychiatric disease; olfactory defects are also frequent; central apnoea is a common cause of mortality. Further, neuronal degeneration might be involved in gastrointestinal dysmotility and a number of urinary tract dysfunctions (hydroureter, detrusor-sphincter dyssynergia, detrusor overactivity, urinary tract atony).
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11571/982654
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