Acta neurologica Taiwanica最新文献

Lafora Disease Presenting with Ataxia and DM1: A Case Study. 以共济失调和DM1为表现的拉福拉病个案研究

Acta neurologica Taiwanica Pub Date : 2024-12-30

Ramin Khanalizadeh, Kosar Karimi

引用次数: 0

Cure the Incurable: Update of Treatment in Inherited Neuromuscular Disorders. 治愈不治之症：遗传性神经肌肉疾病治疗的最新进展。

Acta neurologica Taiwanica Pub Date : 2024-12-30

Cheng-Hao Yu, Kuan-Lin Lai

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Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy. 脊髓肌肉萎缩症疾病修饰疗法的最新进展。

Acta neurologica Taiwanica Pub Date : 2024-09-30

Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng

{"title":"Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy.","authors":"Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng","doi":"","DOIUrl":"","url":null,"abstract":"Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of the SMN2 gene, which provides an opportunity for drug targeting to enhance SMN expression. Current three disease modifying drugs, including nusinersen, onasemnogene abeparvovec, and risdiplam, have demonstrated impressive effectiveness in SMA treatment. Nusinersen is an antisense oligonucleotide targeting SMN2 pre-messenger RNA (mRNA) to modify alternative splicing and is effective in SMA children and adults, administrating via intermittent intrathecal injection. Onasemnogene abeparvovec is an adeno-associated viral vector carrying human SMN1 gene, featuring intravenous injection once in a lifetime for SMA patients less than 2 years of the age. Risdiplam is a small molecule also targeting SMN2 pre-mRNA and is effective in SMA children and adults with administration via oral intake once per day. Patients with SMA should receive these disease modifying therapies as soon as possible to not only stabilize disease progression, but potentially obtain neurological improvement. The development in these therapies has benefited patients with SMA and will potentially provide insight in future drug discovery for other neurodegenerative diseases. Keywords: Adeno-associated viral vector, antisense oligonucleotide, disease modifying therapy, gene therapy, motor neuron disease, spinal muscular atrophy.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":"33(3) ","pages":"81-88"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Application of Perfusion Imaging in the Telehealth Setting for Acute Ischemic Stroke. 在远程医疗环境中应用灌注成像治疗急性缺血性中风。

Acta neurologica Taiwanica Pub Date : 2024-06-30

Michael Valente, Thanh Phan, Mark Parsons, Henry Ma

引用次数: 0

Bilateral Medial Medullary Infarct with Unique Radiological Presentation. 双侧髓质内侧梗死，有独特的放射学表现。

Acta neurologica Taiwanica Pub Date : 2024-03-30 DOI: 10.4103/ANT.33-1_111_0017

Güngör Çakmakci, Mustafa Çetiner, Niyazi Uysal, Fatma Akkoyun Arikan, Sibel Canbaz Kabay

引用次数: 0

Myalgia! Where does it come from? 肌痛!它从何而来?

Acta neurologica Taiwanica Pub Date : 2023-12-30

Hsun-Hua Lee, Chih-Cheng Chen

{"title":"Myalgia! Where does it come from?","authors":"Hsun-Hua Lee, Chih-Cheng Chen","doi":"","DOIUrl":"","url":null,"abstract":"Myalgia (also called muscle pain or muscle ache) is a symptom associated with many diseases, including fibromyalgia, neurodegenerative diseases, degenerative spine diseases, etc. Myalgia is a major medical problem affecting 60~85% of the population (lifetime prevalence). However, our understanding of chronic myalgia is still limited and effective treatment for intractable myalgia like fibromyalgia is still lacking. Although multifactorial, one known source of muscle pain is tissue acidosis. Experimental muscle pain can be induced by the intramuscular infusion of a buffered acidic solution in humans. As well, animal studies have revealed that acidic infusion activates chemosensitive nociceptors via the proton-sensing ion channels and receptors. Intriguingly, acid signaling in muscle afferents is promiscuous and could be either pro-nociceptive or antinociceptive, so we have coined the term sngception to describe the somatosensory function of acid sensation. Recent single-cell RNAseq studies have shown proton-sensing ion channels and receptors are expressed in all subpopulations of the somatosensory neurons, including nociceptors and non-nociceptive mechanoreceptors. Here, we address how the acid signaling is integrated in muscle afferents and why muscle pain can be chronic and intractable in mouse models of fibromyalgia. Besides acidosis, we have recently found oxidative stress can be another factor to activate proton-sensing ion channels and thus trigger fibromyalgia-like pain in mice. Together, understanding how the acid signaling works in muscle afferents will provide novel therapeutic strategies for myalgia.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":"32(4) ","pages":"230-239"},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0