文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

遗传性痉挛性截瘫:最新进展

Hereditary Spastic Paraplegia: An Update.

作者信息

Meyyazhagan Arun, Orlacchio Antonio

机构信息

Dipartimento di Medicina e Chirurgia, Università di Perugia, 06132 Perugia, Italy.

Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, 00143 Rome, Italy.

出版信息

Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697.


DOI:10.3390/ijms23031697
PMID:35163618
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8835766/
Abstract

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord's lateral region, comprising the corticospinal routes. The prevalence ranges from 0.1 to 9.6 subjects per 100,000 reported around the globe. Though modern medical interventions help recognize and manage the disorder, the symptomatic measures remain below satisfaction. The present review assimilates the available data on HSP and lists down the chromosomes involved in its pathophysiology and the mutations observed in the respective genes on the chromosomes. It also sheds light on the treatment available along with the oral/intrathecal medications, physical therapies, and surgical interventions. Finally, we have discussed the related diagnostic techniques as well as the linked pharmacogenomics studies under future perspectives.

摘要

遗传性痉挛性截瘫(HSP)是一种罕见的神经退行性疾病,主要临床表现为下肢痉挛。HSP根据遗传方式、表型特征和分子病理生理学模式进行分类,常伴有颈胸段脊髓外侧区域(包括皮质脊髓束)轴突的退变。全球报告的患病率为每10万人中有0.1至9.6人。尽管现代医学干预有助于识别和管理该疾病,但症状治疗措施仍不尽人意。本综述汇总了关于HSP的现有数据,列出了其病理生理学中涉及的染色体以及在这些染色体上各自基因中观察到的突变。它还阐述了现有的治疗方法,包括口服/鞘内药物、物理治疗和手术干预。最后,我们从未来展望的角度讨论了相关的诊断技术以及相关的药物基因组学研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/0211dcb3a6be/ijms-23-01697-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/169074f30c7d/ijms-23-01697-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/a1f9a0239bbd/ijms-23-01697-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/d87b0a165c8f/ijms-23-01697-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/0211dcb3a6be/ijms-23-01697-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/169074f30c7d/ijms-23-01697-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/a1f9a0239bbd/ijms-23-01697-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/d87b0a165c8f/ijms-23-01697-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95c/8835766/0211dcb3a6be/ijms-23-01697-g004.jpg

相似文献

[1]
Hereditary Spastic Paraplegia: An Update.

Int J Mol Sci. 2022-2-1

[2]
Hereditary spastic paraplegia.

Neurol Sci. 2021-3

[3]
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Lancet Neurol. 2008-12

[4]
The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

Int J Mol Sci. 2022-7-11

[5]
Hereditary spastic paraplegia.

Curr Neurol Neurosci Rep. 2006-1

[6]
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Brain. 2017-2

[7]
Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives.

Expert Opin Pharmacother. 2006-10

[8]
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Cerebellum. 2017-4

[9]
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Arch Neurol. 2004-1

[10]
Molecular aspects of hereditary spastic paraplegia.

Exp Cell Res. 2014-3-11

引用本文的文献

[1]
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.

Neurogenetics. 2025-8-9

[2]
The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.

Orphanet J Rare Dis. 2025-7-1

[3]
Outcome measures of instrumented gait analysis in hereditary spastic paraplegia: a systematic review.

J Neuroeng Rehabil. 2025-6-5

[4]
Application of Natural Products in Neurodegenerative Diseases by Intranasal Administration: A Review.

Pharmaceutics. 2025-5-20

[5]
Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions.

Int J Mol Sci. 2025-5-20

[6]
A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52).

Genes (Basel). 2025-4-30

[7]
The Intersection of Genetics and Neuroimaging: A Systematic Review of Imaging Genetics in Neurological Disease for Personalized Treatment.

J Mol Neurosci. 2025-5-13

[8]
Role of Residues Undergoing Hereditary Spastic Paraplegias Mutations: Insights from Simulating the Spiral to Ring Transition in Katanin.

J Chem Inf Model. 2025-5-12

[9]
Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models.

Hum Mutat. 2023-6-16

[10]
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.

J Inherit Metab Dis. 2025-3

本文引用的文献

[1]
Therapeutic Strategies for Mutant -Based Hereditary Spastic Paraplegia.

Brain Sci. 2021-8-18

[2]
Driving fibrosis in neuromuscular diseases: Role and regulation of Connective tissue growth factor (CCN2/CTGF).

Matrix Biol Plus. 2021-3-6

[3]
Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery.

Brain Sci. 2021-3-22

[4]
Muscle Characteristics in Pediatric Hereditary Spastic Paraplegia vs. Bilateral Spastic Cerebral Palsy: An Exploratory Study.

Front Neurol. 2021-2-26

[5]
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

Mol Genet Genomic Med. 2021-5

[6]
Hereditary spastic paraplegia.

Neurol Sci. 2021-3

[7]
Prenatal diagnosis of duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease.

Aging (Albany NY). 2021-1-11

[8]
PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.

Brain. 2021-3-3

[9]
Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease.

Cell Death Dis. 2020-10-22

[10]
SUMOylation of spastin promotes the internalization of GluA1 and regulates dendritic spine morphology by targeting microtubule dynamics.

Neurobiol Dis. 2020-12

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索