Acta neurologica Taiwanica最新文献

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Multidisciplinary approach to Fibromyalgia: What are we learning from updated evidence-based medicine? 纤维肌痛的多学科治疗方法:我们从最新的循证医学中学到了什么?
Acta neurologica Taiwanica Pub Date : 2022-01-18
Jiu-Haw Yin, Giia-Sheun Peng, Long-Sun Ro
{"title":"Multidisciplinary approach to Fibromyalgia: What are we learning from updated evidence-based medicine?","authors":"Jiu-Haw Yin, Giia-Sheun Peng, Long-Sun Ro","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fibromyalgia (FM) is a disease characterized by amplified pain responses; here, hyperalgesia occurs in response to noxious stimuli, and allodynia occurs in response to non-noxious stimuli. The diagnosis of FM is often time consuming because it overlaps with psychosomatic symptoms. Indeed, most cases of FM are combined with other comorbidities, such as rheumatological diseases, mental disorders, or gastrointestinal disorders. The main symptoms of FM, which include pain, fatigue, and sleep disturbance, are poorly discriminatory and, thus, greatly increase the difficulty of diagnosis. The 2017 European League Against Rheumatism treatment guidelines of FM recommend that non-pharmacological therapies based on exercise should first be attempted after a diagnosis of FM. Although drug treatments appear to be effective, evidence supporting the use of this treatment modality is relatively weak. Obtaining a broad understanding of FM can help clinicians formulate individualized treatment to improve patient functions and quality of life. Key words: fibromyalgia, diagnostic criteria, non-pharmacological therapy.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"None"},"PeriodicalIF":0.0,"publicationDate":"2022-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39734772","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
Early Rehabilitation after Acute Stroke:The Golden Recovery Period. 急性中风后的早期康复:黄金恢复期。
Acta neurologica Taiwanica Pub Date : 2022-01-18
Yi Liu, Jiu-Haw Yin, Jiunn-Tay Lee, Giia-Sheun Peng, Fu-Chi Yang
{"title":"Early Rehabilitation after Acute Stroke:The Golden Recovery Period.","authors":"Yi Liu, Jiu-Haw Yin, Jiunn-Tay Lee, Giia-Sheun Peng, Fu-Chi Yang","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Stroke is a leading cause of disability worldwide. Neuroplasticity, a condition wherein the brain's dynamic response to injury is heightened and rehabilitation might be effective, is observed shortly after acute stroke. However, although several trials have demonstrated that initiating treatment within 24 hours after stroke is potentially harmful, some have shown that early rehabilitation of patients is beneficial. Administration of constraint-induced movement therapy within two weeks after stroke appears to be beneficial for the upper extremities. In addition, intensive early post-stroke therapy may be beneficial for patients with severe aphasia. Novel approaches to early treatment of post-stroke dysphagia appear promising; however, the high rate of spontaneous improvement makes it difficult to gauge their benefits. Overall, although increasing evidence indicates that initiating rehabilitative strategies within two weeks after stroke is beneficial for some deficits, the optimal time for initiating post-stroke rehabilitation remains undetermined. Keywords: stroke, early rehabilitation, neuroplasticity, early mobilization.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"None"},"PeriodicalIF":0.0,"publicationDate":"2022-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39734774","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
Acute and chronic bilateral internal carotid artery occlusion. 急性和慢性双侧颈内动脉闭塞。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Tsai-Yuan Chen, Wan-Ling Chang, Pei-Ya Chen, Cheng-Lun Hsiao, Shinn-Kuang Lin
{"title":"Acute and chronic bilateral internal carotid artery occlusion.","authors":"Tsai-Yuan Chen,&nbsp;Wan-Ling Chang,&nbsp;Pei-Ya Chen,&nbsp;Cheng-Lun Hsiao,&nbsp;Shinn-Kuang Lin","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Occlusion of both internal carotid arteries (ICAs) is rare. Clinical manifestations of stroke vary widely. We conducted a retrospective review to compare acute and chronic bilateral ICA occlusion.</p><p><strong>Methods: </strong>We retrospectively reviewed records of inpatients with acute ischemic stroke and carotid duplex sonography (CDS) during the period from February 2006 to February 2021.</p><p><strong>Results: </strong>Bilateral ICA occlusion and acute bilateral ICA occlusion accounted for 0.3% and less than 0.1% of all ischemic stroke cases, respectively. All five patients with acute bilateral ICA occlusion presented with consciousness disturbance. Three patients died within 1 week, and two patients had a vegetative outcome. Pituitary apoplexy with bilateral ICA occlusion was observed in one patient. Forward bilateral ophthalmic arterial flow (OAF) was detected in all three patients who received CDS. Among 13 patients with chronic bilateral ICA occlusion, five and six had modified Rankin Scale (mRS) scores upon discharge of more than 5 and less than 2, respectively; two patients did not have a stroke. Of the 13 patients, 11 had reversed bilateral OAF. Patients with acute bilateral ICA occlusion had a higher rate of initial consciousness disturbance, Glasgow Coma Scale score of less than 9, National Institute of Health Stroke Scale score of more than 20, and mRS score of more than 5. than that of patients with chronic bilateral ICA occlusion.</p><p><strong>Conclusion: </strong>Patients with acute bilateral ICA occlusion had higher initial stoke severity, poorer collateral circulation, and worse clinical outcomes than did those with chronic bilateral ICA occlusion. Physicians must pay attention to rare causes of acute bilateral ICA occlusion, including pituitary apoplexy.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"128-140"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39942034","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
A Study of Seven Patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Eastern Taiwan: A Case Series with Literature Review. 台湾东部7例常染色体显性脑动脉病合并皮质下梗死及脑白质病(CADASIL)病例分析并文献复习。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Phyo-Wai Thu, Raymond Y Lo
{"title":"A Study of Seven Patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Eastern Taiwan: A Case Series with Literature Review.","authors":"Phyo-Wai Thu,&nbsp;Raymond Y Lo","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common cause of heritable vascular dementia. Recognizing the disease before the full-blown clinical features is challenging, so our case series high light clinical characteristics, screening tools and diagnostic process of the patients with CADASIL.</p><p><strong>Case report: </strong>Our case series reports neurocognitive features, neuroimaging, and exemplary pedigrees of seven patients with genetically confirmed CADASIL, in which six patients presented with dementia and the other one presented with migraine.</p><p><strong>Conclusion: </strong>Our report is the single-center experience of our hospital in eastern Taiwan, where access to medical care and genetic test is relatively limited compared to other parts of Taiwan. We had also compared the utility of Davous' CADASIL criteria and the CADASIL scale, and both can be used as sensitive screening tools before genetic tests, especially in the area with limited medical access.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"162-170"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39786796","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
Symptomatic Migraine with Prolonged Visual Aura and Unruptured Occipital Arteriovenous Malformation. 伴有长时间视觉先兆和未破裂枕动静脉畸形的症状性偏头痛。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Wei-Ting Liu, Chien-Jen Lin, Poh-Shiow Yeh
{"title":"Symptomatic Migraine with Prolonged Visual Aura and Unruptured Occipital Arteriovenous Malformation.","authors":"Wei-Ting Liu,&nbsp;Chien-Jen Lin,&nbsp;Poh-Shiow Yeh","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A 35 year-old woman had a two-year history of recurrent headache with clinical presentations of visual aura in her left visual field followed by right-sided throbbing headache. The patient suffered from a similar attack but her visual aura-like symptoms persisted for over 48 hours. The concurrent electroencephalogram demonstrated focal non-epileptiform rhythmic slow waves in the right occipital region. The magnetic resonance images showed prominent parenchymal edema in the right occipital area. The cerebral angiographic study proved a small cerebral arteriovenous malformation. This illustrated case showed that cerebral arteriovenous malformation produces headaches mimicking migraine with visual aura. The acute vascular flow change and the parenchymal edema trigger a prolonged visual aura with coinstantaneous evidence of cortical depression shown on the electroencephalogram. Keywords: Symptomatic migraine; Prolonged visual aura; Unruptured arteriovenous malformation.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"151-154"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39786794","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
The Clinical Characteristics and Therapeutic Outcomes of Escherichia Coli Meningitis in Adults. 成人大肠杆菌脑膜炎的临床特点及治疗效果。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Wen-Chiu Hsiao, Jun-Jun Lee, Chun-Chih Chien, Cheng-Hsien Lu, Wen-Neng Chang, Chia-Yi Lien
{"title":"The Clinical Characteristics and Therapeutic Outcomes of Escherichia Coli Meningitis in Adults.","authors":"Wen-Chiu Hsiao,&nbsp;Jun-Jun Lee,&nbsp;Chun-Chih Chien,&nbsp;Cheng-Hsien Lu,&nbsp;Wen-Neng Chang,&nbsp;Chia-Yi Lien","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>To examine the clinical characteristics and therapeutic outcome of Escherichia (E.) coli adult bacterial meningitis (ABM).</p><p><strong>Methods: </strong>The demographic data, clinical and laboratory features and therapeutic outcome of 25 E. coli ABM patients were examined retrospectively. The clinical features of the reported E. coli ABM cases were also included for analysis.</p><p><strong>Results: </strong>The 25 E. coli ABM patients included 12 women and 13 men, aged 33-78 years (mean= 59.9). Of these 25 patients, 13 had a postneurosurgical state as the underlying condition. As to the underlying medical conditions, diabetes mellitus was the most common, found in 9 of the 25 cases. Of the clinical manifestation, severe neurologic manifestations including altered consciousness (19), hydrocephalus (10), seizure (7) acute/subacute cerebral infarct (5), brain abscess (2), subdural empyema (1) and spinal abscess (1) were found, and the other clinical features included fever (21), septic shock (8), bacteremia (6) and hyponatremia (3). With treatment, the mortality rate was more than 44.0% and the presence of septic shock was a significant prognostic factor. With literature review, 29 community-acquired and 12 postneurosurgical E. coli ABM cases were enrolled, and severe neurologic manifestation and high mortality rate were also found.</p><p><strong>Conclusions: </strong>This preliminary overview of E. coli ABM revealed the underlying conditions, severe neurologic manifestation and high mortality rate. Further large-scale, prospective study is needed for a better delineation of this specific infectious syndrome of adult E. coli meningitis.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"141-150"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39942035","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
Cerebral Venous Thrombosis Mimicking Acute Ischemic Stroke in the Emergency Assessment of Thrombolysis Eligibility: Learning from a Misdiagnosed Case. 脑静脉血栓模拟急性缺血性脑卒中在溶栓资格紧急评估中的应用:一个误诊病例的经验教训。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Po-Yu Lin, Ying-Chen Chen, Yuan-Ting Sun
{"title":"Cerebral Venous Thrombosis Mimicking Acute Ischemic Stroke in the Emergency Assessment of Thrombolysis Eligibility: Learning from a Misdiagnosed Case.","authors":"Po-Yu Lin,&nbsp;Ying-Chen Chen,&nbsp;Yuan-Ting Sun","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Cerebral venous thrombosis (CVT) occasionally presents with acute focal neurologic signs, mimicking arterial stroke syndrome. Diagnosing CVT in the setting of thrombolysis eligibility evaluation is challenging. We reported this case to discuss the promptly recognizing CVT in the setting of thrombolysis eligibility evaluation, and review the literature of thrombolytic therapy in CVT patients.</p><p><strong>Case report: </strong>A 57-year-old man presented with acute-onset right upper extremity monoparesis, right facial palsy, and aphasia. He underwent emergent thrombolysis with recombinant tissue plasminogen activator according to American Stroke Association guidelines. Subsequently, CVT was identified on multiphase computed tomography (CT) angiography. His symptoms initially improved but subsequently deteriorated because of intracranial hemorrhage. Cryoprecipitate and tranexamic acid were immediately administered. Anticoagulation was started 24 hours after the onset of hemorrhage. His modified Rankin Scale score was 4 at 120 days after the hemorrhage.</p><p><strong>Conclusion: </strong>Patients with CVT have a higher risk of thrombolysis-related intracranial hemorrhage than other stroke mimics. A greater focus on noncontrast brain CT and the venous phase of CT angiography help identifying this stroke mimic before thrombolysis.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"155-161"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39786795","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
Management of carotid artery stenosis. 颈动脉狭窄的处理。
Acta neurologica Taiwanica Pub Date : 2021-12-15
Tsong-Hai Lee
{"title":"Management of carotid artery stenosis.","authors":"Tsong-Hai Lee","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The incidence of both ischemic and hemorrhagic stroke is more common in Asians compared to Caucasian (1). It is found there is a decreased incidence of ischemic stroke in Northern America but increased incidence in Africa, Mongolia and southeast Asia. In the epidemiological study of carotid artery stenosis (CAS), Framingham study showed the prevalence of significant extracranial CAS was 7% in women and 9% in men (2). Among all strokes in Caucasian population, 20 to 30% were due to extracranial CAS and 5 to 10% due to intracranial atherosclerosis (3, 4). Northern Manhattan stroke study also found intracranial atherosclerosis could be seen in 6 to 10% of ischemic strokes in white patients, but up to 29% among African Americans and Hispanics (5). Intracranial artery stenosis was more frequently found in Chinese population than extracranial artery stenosis with the range of 3.7% - 70.4% of intracranial CAS and 1.5%-49% of extracranial CAS (6). Intracranial artery stenosis is more common in Asian, Hispanic, and African-American populations. In hospitalized patients with symptomatic intracranial stenosis, it was only 1% in non-Hispanic whites, while 50% in Asian populations. Population-based studies revealed the prevalence of symptomatic intracranial disease was 1 in 100,000 for whites to 15 in 100,000 for African Americans, but 7% of the population aged more than 40 years for Chinese (7). Concurrent atherosclerosis of extracranial and intracranial arteries was also common in Asians. It was reported 10% to 48% in patients with symptomatic cerebrovascular disease, and 21% of stroke patients had concurrent stenoses in Hong Kong, 33% in China, 18% in Taiwan, and 48% of patients with more than 30% extracranial carotid stenosis had concurrent intracranial stenosis in South Korea (8). The study of concomitant atherosclerotic arterial diseases showed in patients with more than 50% significant CAS, the most frequent artery was coronary artery disease which was found in 68% of patients, while renal artery stenosis and limb artery stenosis were found in 20% and 21% of patients, respectively (9). Carotid artery stenosis of 70% or greater was detected in 37.7% patients with cerebrovascular disease, 24.5% patients with peripheral arterial disease, and 11.1% patients with coronary artery disease (10). Significant extracranial carotid and vertebral artery disease (ECCVD) identified by duplex ultrasonography is not uncommon in Chinese patients with coronary artery disease (CAD), and 22.9% ECCVD was seen in patients with CAD, comparable with that reported in white populations (11). In our Stroke Registry In Chang-Gung Healthcare System (SRICHS) from 2008 to 2011 (Fig. 1), we found large artery atherosclerosis (LAA) occupied 19.5% of total ischemic stroke patients and 3.1% had concurrent atrial fibrillation (12).</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(4) ","pages":"123-127"},"PeriodicalIF":0.0,"publicationDate":"2021-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39942033","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
Spectrum of Movement Disorders in two Movement Disorders Centers in the Philippines. 菲律宾两个运动障碍中心的运动障碍谱。
Acta neurologica Taiwanica Pub Date : 2021-09-30
Jeryl Ritzi T Yu, Roland Dominic G Jamora, Estrela L Silverio, Juan Miguel P Bautista, Kathleen Jaye L Luspian, Rosemarie M Tiongson, Arlene R Ng
{"title":"Spectrum of Movement Disorders in two Movement Disorders Centers in the Philippines.","authors":"Jeryl Ritzi T Yu,&nbsp;Roland Dominic G Jamora,&nbsp;Estrela L Silverio,&nbsp;Juan Miguel P Bautista,&nbsp;Kathleen Jaye L Luspian,&nbsp;Rosemarie M Tiongson,&nbsp;Arlene R Ng","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Presently, there are no epidemiologic data on the prevalence of movement disorders in the Philippines. We aim to describe the most common phenomenologies and movement disorders in two specialty centers in Metro Manila dedicated to movement disorders.</p><p><strong>Methods: </strong>We investigated the clinical spectrum and etiologies of movement disorders referred to our centers from January 2007-December 2019 using a standardized collection form.</p><p><strong>Results: </strong>A total of 1438 patients presenting with complaints relating to movement disorders were evaluated between 2007 to 2019. There were 770 (53.5%) men. The mean age was 57.1 ± 17.9 years. The most common movement disorders were parkinsonism (n=677, 47.1%), myoclonus (n=212, 14.7%) and tremor (n=208, 14.5%). The least common was restless legs syndrome (n=4, 0.3%). There were 78 (37.7% of total dystonia cases) X-linked dystonia-parkinsonism patients referred to our clinic. Majority of the botulinum toxin injections were for hemifacial spasms (n=206). A small number of patients (n=41) were also seen at the center for deep brain stimulation programming.</p><p><strong>Conclusion: </strong>The most common movement disorders managed were parkinsonism, myoclonus and tremor. The most common diagnoses were Parkinson's disease, hemifacial spasm and essential tremor. This study highlights the spectrum of movement disorders encountered in two specialty clinics in two Philippine tertiary hospitals. Given these varied cases, there is also a need for more movement specialists and centers dedicated to movement disorders to manage these cases.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(3) ","pages":"94-101"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39786798","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
Updates on the Genetics of Parkinson's Disease: Clinical Implications and Future Treatment. 帕金森病遗传学的最新进展:临床意义和未来治疗。
Acta neurologica Taiwanica Pub Date : 2021-09-30
Yung-Tsai Chu, Chun-Hwei Tai, Chin-Hsien Lin, Ruey-Meei Wu
{"title":"Updates on the Genetics of Parkinson's Disease: Clinical Implications and Future Treatment.","authors":"Yung-Tsai Chu,&nbsp;Chun-Hwei Tai,&nbsp;Chin-Hsien Lin,&nbsp;Ruey-Meei Wu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Parkinson' disease (PD) is a common neurodegenerative disease with the pathological hallmark of alpha-synuclein aggregation within dopaminergic neurons. The etiology of PD comes from a complex interplay between genetic and environmental factors. Though most cases of PD are sporadic; a family history of PD is found in approximately 15% of patients. Pathogenic mutations are found in 5% to 10% of individuals with either familial or sporadic PD. In recent decades, because of the advent of next generation sequencing, more than 25 genes have been identified as causative genes in PD. These findings allow better understanding of the pathogenesis of PD, including aberrant alpha-synuclein homeostasis, defective mitochondrial functions, and impairment of the ubiquitin-proteasome and autophagy-lysosome pathways. Among the PD-causative genes, LRRK2 mutation is the most frequent mutation in autosomal dominant PD and Parkin mutation is prevalent in patients with autosomal recessive or early onset PD. Several genetic epidemiology studies in Asians have revealed a distinctive mutation spectrum from Western populations, reinforcing the importance of ethnic differences in PD. Proper genetic testing is recommended for patients with early onset, a strong family history, or associated red flag clinical features. Considering that clinical trials of disease-modifying therapy targeting patients with specific mutations are ongoing and we are in the era of precision medicine, this review highlights recent updates of genetic findings in patients with PD, focusing on Asian populations and practical recommendations for genetic testing. Keywords: Parkinson's disease, Genetics.</p>","PeriodicalId":7102,"journal":{"name":"Acta neurologica Taiwanica","volume":"30(3) ","pages":"83-93"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39786797","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
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