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Article

Teaching NeuroImages: a neuroendocrine rarity: Wolfram syndrome.

Neurology - 12 Nov 2013

Vale Thiago Cardoso, Perpétuo Francisco Otaviano Lima

Abstract excerpt

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD syndrome). It is caused by a mutation in the WFS1 gene (chromosome 4p16.1, involved in regulation of intracellular calcium) that encodes wolframin, a transmembrane protein of pancreatic β cells. WS1 is a rare disorder characterized by the development of...

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Source

Identifiers

PMID: 24218323
DOI: 10.1212/01.wnl.0000435559.06072.d6

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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