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Article

Wolfram Syndrome 1: From Genetics to Therapy.

International journal of environmental research and public health - 9 Mar 2022

Rigoli Luciana, Caruso Valerio, Salzano Giuseppina, Lombardo Fortunato

Abstract excerpt

Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms, such as urinary tract, endocrinological, psychiatric, and neurological abnormalities. WS1 is caused by mutations...

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Identifiers

PMID: 35328914
DOI: 10.3390/ijerph19063225
PMCID: PMC8949990

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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