伍德豪斯-萨卡蒂综合征：综述。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Revue neurologique Pub Date : 2025-01-01 DOI:10.1016/j.neurol.2023.11.008

C. Messina

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引用次数: 0

摘要

脑铁积聚性神经变性（NBIA）是一种罕见的遗传性运动障碍，是由于参与组织金属（如铁或铜）平衡和其他代谢途径的蛋白质功能受到突变影响而引起的，但所编码蛋白质的确切功能并不总是已知的。伍德豪斯-萨卡蒂综合征（Woodhouse-Sakati Syndrome，WSS）是最罕见的 NBIAs 之一。伍德豪斯-萨卡蒂综合征患者的特征是内分泌和神经系统表现以及神经放射学发现。然而，诊断标准尚未公布。本文回顾了 WSS 在遗传学、临床、生物学和影像学方面的最新发现，并为认识这种极其罕见的疾病提供了实用指南。

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Woodhouse-Sakati syndrome: A review

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.

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来源期刊

Revue neurologique 医学-临床神经学

CiteScore

4.80

自引率

0.00%

发文量

598

审稿时长

55 days

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.