Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

Barrett, Timothy; Bundey, Sarah; Macleod, Andrew

doi:10.1016/s0140-6736(95)92473-6

Cited by 542 publications

(712 citation statements)

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“…[9][10][11] Clinical characteristics of these syndromes and of the patient are shown in Table 1. Both syndromes show extensive clinical variability and share impaired glucose metabolism (diabetes), impaired vision and hearing, and neurological abnormalities, which were observed in our patient.…”

Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes presenting ketoacidosis, early-onset retinopathy with optic atrophy, hearing loss, diabetes insipidus, epilepsy, and normal weight and stature, who later developed insulin resistance. Despite similarities with Wolfram syndrome, we excluded the WFS1 gene as responsible for this disease. Using combined linkage and candidate gene study, we selected ALMS1, responsible for Alströ m syndrome, as a candidate gene. We identified a novel splice mutation in intron 18 located 3 bp before the intron-exon junction (IVS18-3T4G), resulting in exon 19 skipping and consequent frameshift generating a truncated protein (V3958fs3964X). The clinical presentation of the patient significantly differed from typical Alströ m syndrome by the absence of truncal obesity and short stature, and by the presence of ketoacidotic insulin-dependent diabetes, optic atrophy and diabetes insipidus. Our observation broadens the clinical spectrum of Alström syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin-dependent diabetes.

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Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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“…There are 15 cases in Bernard's study with diabetic retinopathy in 200 revised syndromes (Bernard & Grange 1987), and in Barrett's series 3 out of 45 patients (Barrett et al 1995).…”

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confidence: 99%

“…About three hundred cases have been reported in literature worldwide, and less than 8 per cent had diabetic retinopathy (Bernard & Grange 1987;Barrett et al 1995). However, there are few references to the description of cataracts associated with this syndrome (Cremers et al 1977;Hoster et al 1990).…”

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confidence: 99%

“…The percentage of patients with a complete Wolfram syndrome, fluctuates between 13% and 53% according to different authors (Barrett et al 1995;Gunn et al 1976).…”

mentioning

confidence: 99%

“…The reason for the low incidence of diabetic retinopathy in these patients remains unknown, despite it being associated with early diabetes of long evolution with bad metabolic control (Barrett et al 1995;García-Luna et al 1988). There are 15 cases in Bernard's study with diabetic retinopathy in 200 revised syndromes (Bernard & Grange 1987), and in Barrett's series 3 out of 45 patients (Barrett et al 1995).…”

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confidence: 99%

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