Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

ABSTRACT:

Objective

To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype correlation.

Research design and methods

The clinical data of 50 patients with Wolfram syndrome-related diabetes (WSD) were reviewed and compared with the data of 24,164 patients with type 1 diabetes. Patients with a mean HbA1c during childhood and adolescence of ≤7.5 and >7.5% were compared with respect to the occurrence of additional Wolfram syndrome symptoms. The wolframin (WFS1) gene was screened for mutations in 39 patients. WFS1 genotypes were examined for correlation with age at onset of diabetes.

Results

WSD was diagnosed earlier than type 1 diabetes

SUBMITTER: Rohayem J 

PROVIDER: S-EPMC3120194 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature