{"title":"Woodhouse-Sakati syndrome: A review","authors":"C. Messina","doi":"10.1016/j.neurol.2023.11.008","DOIUrl":null,"url":null,"abstract":"<div><div><span><span>Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of </span>movement disorders caused by mutations affecting the function of proteins that participate in the </span>homeostasis<span> of tissue metals such as iron or copper and other metabolic pathways, although the precise function of the proteins encoded are not always known. Woodhouse-Sakati Syndrome (WSS) is one of the rarest NBIAs. Patients with WSS are characterized by endocrinological and neurological manifestations<span> and neuroradiological findings. However, diagnostic criteria have not been published yet. This article reviews updates on the genetic, clinical, biological and imaging findings of WSS and provides a practical guide to recognize this extremely rare disorder.</span></span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 1","pages":"Pages 21-30"},"PeriodicalIF":2.8000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revue neurologique","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0035378724000237","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of movement disorders caused by mutations affecting the function of proteins that participate in the homeostasis of tissue metals such as iron or copper and other metabolic pathways, although the precise function of the proteins encoded are not always known. Woodhouse-Sakati Syndrome (WSS) is one of the rarest NBIAs. Patients with WSS are characterized by endocrinological and neurological manifestations and neuroradiological findings. However, diagnostic criteria have not been published yet. This article reviews updates on the genetic, clinical, biological and imaging findings of WSS and provides a practical guide to recognize this extremely rare disorder.
期刊介绍：
The first issue of the Revue Neurologique, featuring an original article by Jean-Martin Charcot, was published on February 28th, 1893. Six years later, the French Society of Neurology (SFN) adopted this journal as its official publication in the year of its foundation, 1899.
The Revue Neurologique was published throughout the 20th century without interruption and is indexed in all international databases (including Current Contents, Pubmed, Scopus). Ten annual issues provide original peer-reviewed clinical and research articles, and review articles giving up-to-date insights in all areas of neurology. The Revue Neurologique also publishes guidelines and recommendations.
The Revue Neurologique publishes original articles, brief reports, general reviews, editorials, and letters to the editor as well as correspondence concerning articles previously published in the journal in the correspondence column.
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