与VPS16相关的抑郁症:扩大临床谱和治疗见解
Baikuntha Panigrahi1, Divya Madathiparambil Radhakrishnan2, Arti Saini2
1Department of Neurology, All India Institute of Medical Sciences, Deoghar, India.
Movement disorders clinical practice
|September 19, 2025
概括
DYT-VPS16是一种罕见的遗传性 dystonia,呈现出各种症状,并对深度大脑刺激 (DBS) 产生积极反应. 早期遗传诊断是有效治疗这种疾病的关键.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 运动障碍 运动障碍
背景情况:
- DYT-VPS16是一种与VPS16基因相关的罕见单基性 dystonia.
- 临床谱和治疗结果,特别是深度脑刺激 (DBS),需要进一步定义.
研究的目的:
- 在印度家庭中描述DYT-VPS16的临床表现和遗传格局.
- 评估DBS在DYT-VPS16患者中的疗效.
主要方法:
- 报告了来自印度五个家庭的6名VPS16变种患者.
- 对34个先前报告的DYT-VPS病例进行了文献审查,其中16例是用DBS治疗的.
- 进行了对DBS响应率的综合分析.
主要成果:
- 发病时的中位数年龄为16.5岁, dystonia 影响宫,上肢或喉区域.
- 其他症状包括震和睡眠障碍.
- DBS显示响应率为0.57 (95% CI:0.31-0.81),表明显著的益处.
结论:
- 这些发现扩大了DYT-VPS16已知的基因型和表型谱,表明南亚患者的潜在较温和,运动占主导地位的表型.
- 在选择的DYT-VPS16病例中,DBS提供了有意义的临床改善.
- 强调早期遗传诊断对于指导治疗策略的重要性.
相关概念视频
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin
1.1K
Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
The binding of dantrolene to the RYR1...
1.1K
Centrally Acting Muscle Relaxants: Therapeutic Uses
1.2K
Centrally acting muscle relaxants reduce muscle tone and tension by interfering with the postsynaptic reflexes in the central nervous system.
Centrally acting drugs are classified into spasmolytic and antispasmodic drugs. Spasmolytic drugs such as baclofen, diazepam, and tizanidine inhibit spinal motor neurons and decrease muscle tone. Spasmolytic drugs are administered for severe and chronic spasms due to multiple sclerosis, cerebral palsy, stroke, and spinal cord and muscle injuries. However,...
Centrally acting drugs are classified into spasmolytic and antispasmodic drugs. Spasmolytic drugs such as baclofen, diazepam, and tizanidine inhibit spinal motor neurons and decrease muscle tone. Spasmolytic drugs are administered for severe and chronic spasms due to multiple sclerosis, cerebral palsy, stroke, and spinal cord and muscle injuries. However,...
1.2K
Skeletal Muscle Relaxants: Therapeutic Uses
918
Skeletal muscle relaxants are used to relax muscle tone and alleviate painful muscle contractions. However, the choice of skeletal muscle relaxants depends on the duration of the surgical procedure in order to minimize potential side effects. Skeletal muscle relaxants like neuromuscular blocking agents [NMBAs] are commonly employed as adjuvants alongside general anesthetics in clinical settings. NMBAs are also used to maintain controlled ventilation during surgery of the larynx or pharynx...
918
Myasthenia Gravis: Overview and Treatment
2.8K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
2.8K
Direct-Acting Cholinergic Agonists: Therapeutic Uses
1.6K
Direct-acting cholinergic agonists have many therapeutic uses in various medical fields. Choline esters, including acetylcholine, have limited clinical utility due to their non-selectivity and short duration of action. Still, acetylcholine and carbachol are applied topically during ophthalmologic surgery to induce miosis. Pilocarpine, a muscarinic and ganglionic stimulator, effectively treats open-angle glaucoma and alleviates xerostomia and dry mouth caused by radiotherapy or Sjögren...
1.6K
Spasmolytic Agents: Chemical Classification
1.3K
Spasmolytic agents are drugs used to alleviate muscle spasms and spasticity. They can be categorized into different chemical groups based on their mechanisms of action. Centrally acting spasmolytics primarily affect the spinal cord, while others directly target skeletal muscle cells.
A major class of centrally acting spasmolytics is the α2-agonist, such as tizanidine. These drugs bind to α2-adrenoceptors, inhibiting the release of the excitatory neurotransmitter glutamate. They also...
A major class of centrally acting spasmolytics is the α2-agonist, such as tizanidine. These drugs bind to α2-adrenoceptors, inhibiting the release of the excitatory neurotransmitter glutamate. They also...
1.3K


