与NUS1致病变体相关的神经现象谱:一个全面的病例系列
Sarah M Brooker1, Maria Novelli2, Robert Coukos1
1Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Annals of neurology
|July 1, 2025
概括
在NUS1的致病变体导致复杂的神经障碍与和运动问题. 大多数受影响的个体经历发育迟缓和严重的残疾从运动障碍.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 越来越多的证据将发育性和性脑病变 (DEE) 的遗传因素与运动障碍联系在一起.
- 最近在DEE病例中发现了NUS1中的De novo功能丧失变体.
研究的目的:
- 报告具有致病性NUS1变异的大量病例队列.
- 描述与NUS1变体相关的临床表现,和运动障碍.
主要方法:
- 使用GeneMatcher平台进行多中心国际合作.
- 对受影响患者的临床病例笔记的回顾性审查.
主要成果:
- 确定了41名38种不同的致病性NUS1变体的受试者.
- 大多数人呈现出发育迟缓和智力障碍.
- 发生在68.3%的病例中;运动障碍发生在87.8%的病例中,通常没有.
- 复杂运动障碍的现象学包括肌, dystonia,无氧和帕金森症.
结论:
- 异卵性NUS1致病变体导致复杂的神经系统疾病.
- 其特点包括DEE和广泛的运动障碍.
- 在大多数情况下,运动障碍是神经障碍的主要来源.
更多相关视频
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.8K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.7K
相关概念视频
01:33Pleiotropy
41.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
01:37Neural Regulation
40.3K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
40.3K
01:43Sex-linked Disorders
103.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.1K