Acta neurologica Taiwanica最新文献

Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study. 台湾遗传性痉挛性截瘫及腓骨肌萎缩症患者由KIF5A突变引起的家族内表型变异：一项横断面观察研究。

Acta neurologica Taiwanica Pub Date : 2025-06-11 DOI: 10.4103/ant.ANT-D-25-00042

Po-Yu Lin, Cheng-Tsung Hsiao, Han-Wei Huang, Yi-Jen Wu, Ssu-Ju Fu, Yi-Chung Lee

{"title":"Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.","authors":"Po-Yu Lin, Cheng-Tsung Hsiao, Han-Wei Huang, Yi-Jen Wu, Ssu-Ju Fu, Yi-Chung Lee","doi":"10.4103/ant.ANT-D-25-00042","DOIUrl":"https://doi.org/10.4103/ant.ANT-D-25-00042","url":null,"abstract":"Background: Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in KIF5A, presenting as either pure or complex HSP.Objectives: This study aims to investigate the clinical and genetic features of KIF5A variants in a Taiwanese cohort diagnosed with HSP.Materials and methods: We analyzed KIF5A coding regions in 219 unrelated Taiwanese patients clinically diagnosed with HSP using a targeted resequencing panel. Clinical, electrophysiological, and neuroimaging features of patients with SPG10 were characterized.Results: Only one (0.5%) patient carried a heterozygous KIF5A variant, c.838C>T (p.Arg280Cys). This patient had a complex HSP phenotype with sensorimotor polyneuropathy, neuropathic pain, appendicular ataxia, and late disease onset at 39 years. Three family members also carried the variant, with one presented with HSP and two with axonal polyneuropathy, diagnosed as axonal Charcot-Marie-Tooth disease (CMT2).Conclusions: SPG10 is a rare HSP subtype in the Taiwanese population. This is the first report of SPG10 in Taiwan, highlighting the coexistence of SPG10 and CMT2 within a single family and the significant intra-familial phenotypic variation.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303868","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

Middle Cerebral Artery Dissection after AstraZeneca COVID-19 Vaccination. 阿斯利康COVID-19疫苗接种后的大脑中动脉夹层。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-29 DOI: 10.4103/ANT.ANT_113_0031

Hsin-Wei Wu, Chia-Hung Wu, Chung-Han Yang, Te-Ming Lin, Kai-Wei Yu, Feng-Chi Chang

引用次数: 0

Ischemic Stroke Due to Septic Emboli in a 78-Year-Old Man With Portal Vein Thrombosis. 78岁男性门静脉血栓化脓性栓子致缺血性卒中一例。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-20 DOI: 10.4103/ANT.ANT_112_0103

Cheng-Pang Tsai, Pei-Hao Chen, Chih-Po Chang

引用次数: 0

Recent Advancement of Neurofibromatosis Type 1: A Narrative Review. 1型神经纤维瘤病的最新进展：述评。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-23 DOI: 10.4103/ant.ANT-D-24-00042

Po-Yuan Huang, Ming-Jen Lee

{"title":"Recent Advancement of Neurofibromatosis Type 1: A Narrative Review.","authors":"Po-Yuan Huang, Ming-Jen Lee","doi":"10.4103/ant.ANT-D-24-00042","DOIUrl":"10.4103/ant.ANT-D-24-00042","url":null,"abstract":"Abstract: Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin. Neurofibromin plays a critical role in regulating the RAS signaling pathway, and its loss leads to uncontrolled cell proliferation and tumor development. Clinically, NF1 presents with variable manifestations, including café-au-lait spots, neurofibromas, optic gliomas, skeletal abnormalities, and cognitive deficits. The updated diagnostic criteria now incorporate genetic testing and choroidal anomalies, facilitating earlier and more accurate diagnoses. Recent molecular insights have revealed that neurofibromin interacts with multiple cellular pathways, contributing to diverse clinical presentations such as plexiform neurofibromas, which may transform into malignant peripheral nerve sheath tumors, and developmental issues such as scoliosis and learning disabilities. Current therapeutic approaches focus on targeting specific signaling molecules involved in tumorigenesis. This review aims to summarize the recent findings on the clinical features, molecular mechanisms, and potential treatments of NF1, offering a comprehensive understanding of the disorder's complexities and highlighting future research directions.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"64-75"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129737","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 Cauda Equina Syndrome Following Spinal Anesthesia During Cesarean Section: A Case Report. 剖宫产术中脊髓麻醉后急性马尾综合征1例报告。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-16 DOI: 10.4103/ANT.ANT_113_0032

Shin-Rung Tsai, Wei-Hao Lin

{"title":"Acute Cauda Equina Syndrome Following Spinal Anesthesia During Cesarean Section: A Case Report.","authors":"Shin-Rung Tsai, Wei-Hao Lin","doi":"10.4103/ANT.ANT_113_0032","DOIUrl":"https://doi.org/10.4103/ANT.ANT_113_0032","url":null,"abstract":"Abstract: This case report aims to discuss the prompt recognition and the possible mechanism of acute cauda equina syndrome (CES) following intrathecal bupivacaine administration for cesarean section. A 30-year-old primigravida developed sudden-onset bilateral lower-extremity weakness, numbness, and paresthesia, along with urinary and bowel incontinence, after an uncomplicated cesarean delivery under spinal anesthesia. Magnetic resonance imaging revealed engorgement and gadolinium enhancement of the cauda equina nerve roots, consistent with a diagnosis of CES. The patient was immediately started on high-dose intravenous steroids and intrathecal triamcinolone, followed by intensive inpatient rehabilitation. However, despite maximal medical treatment, the patient exhibited only minimal improvement, with persistent neurological deficits and dysfunction. This case highlights the importance of maintaining a high index of suspicion for CES following intrathecal bupivacaine administration and the need for prompt recognition and multidisciplinary management to optimize maternal outcomes. Understanding the potential mechanisms underlying bupivacaine-induced neurotoxicity, including direct nerve toxicity, vascular changes, and synergistic effects, may guide the development of targeted therapeutic strategies to mitigate this devastating complication. Early spinal imaging, high-dose steroid therapy, and a collaborative approach involving obstetrics, anesthesiology, neurology, and rehabilitation services are crucial for the successful management of acute CES.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":"34 2","pages":"98-101"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144236209","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

Intracranial Atypical Cartilaginous Tumor (Low-grade Chondrosarcoma) Involving Temporal Bone, Clivus, Sphenoclival Synchondrosis, and Cavernous Sinus: A Rare Case Report. 颅内非典型软骨肿瘤（低级别软骨肉瘤）累及颞骨、斜坡、蝶巩膜软骨联合及海绵窦：罕见病例报告。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-23 DOI: 10.4103/ANT.ANT_113_0024

Marsal Risfandi, Celia Celia, Robert Shen, Andre Marolop Pangihutan Siahaan, Adeodata Lily Wibisono

{"title":"Intracranial Atypical Cartilaginous Tumor (Low-grade Chondrosarcoma) Involving Temporal Bone, Clivus, Sphenoclival Synchondrosis, and Cavernous Sinus: A Rare Case Report.","authors":"Marsal Risfandi, Celia Celia, Robert Shen, Andre Marolop Pangihutan Siahaan, Adeodata Lily Wibisono","doi":"10.4103/ANT.ANT_113_0024","DOIUrl":"10.4103/ANT.ANT_113_0024","url":null,"abstract":"Abstract: Intracranial atypical cartilaginous tumors (ACTs) or low-grade chondrosarcoma are rare among all skull base and intracranial tumors. Late diagnosis leads to higher morbidity and worsened neurological deficits caused by neurovascular compression. Intracranial ACTs have a higher mortality rate than other ACTs due to their location, difficulty of surgical management, local invasiveness, and recurrence rate. This report aims to highlight the challenges of diagnosing and managing intracranial ACTs, which can present with symptoms mimicking other cranial base tumors. It also aims to raise awareness about the possibility of misdiagnosis, which can lead to futile pharmacological treatment. To the best of the authors' knowledge, no published cases of intracranial ACTs from Indonesia have been reported. A 43-year-old female with complaints of chronic left facial numbness and paralysis, diplopia, tinnitus, and posture and exertion-related headache with worsening symptoms for the last 2 months, especially after waking up in the morning, with a disturbance of the left cranial nerves V-2, V-3, VI, VII, and VIII. The patient had been receiving symptomatic treatment repeatedly with several differential diagnoses for one-prior-year due to an underdiagnosis. Magnetic resonance imaging showed a mass with bone destruction located on the left temporal bone involving sphenoclival synchondrosis, clivus, and cavernous sinus with a ring-and-arch-forming calcification with the lytic pattern. After total gross resection, the diagnosis of ACTs was confirmed by a histopathological specimen that shows an abundant lobulated mass composed of uniform hyaline cartilage matrix, increased cellularity, and myxoid changes. Continuous follow-up is necessary because ACTs have a mild recurrence rate despite a high postsurgical survival rate.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"93-97"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129731","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

Subacute Subdural Hematoma Following Ventriculoperitoneal Shunt Procedure: A Case Report. 脑室腹腔分流术后亚急性硬膜下血肿1例报告。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-29 DOI: 10.4103/ANT.ANT_113_0015

Rizaldy Taslim Pinzon, Nunki Puspita Utomo

{"title":"Subacute Subdural Hematoma Following Ventriculoperitoneal Shunt Procedure: A Case Report.","authors":"Rizaldy Taslim Pinzon, Nunki Puspita Utomo","doi":"10.4103/ANT.ANT_113_0015","DOIUrl":"10.4103/ANT.ANT_113_0015","url":null,"abstract":"Abstract: The ventriculoperitoneal shunt (VPS) procedure is known to be a risk factor for subdural hematoma (SDH), although it is uncommon. The development after possible cerebrospinal fluid overdrainage and stretching of bridging veins facilitates the further expansion of the hematoma, thus provoking intracranial symptoms and often necessitates surgical treatment. However, in the case of complications, the incidence of SDH post-VPS insertion is not well documented, especially in Indonesia. We reported a case of a 59-year-old previously healthy Indonesian male with sudden right-side extremity weakness and dysarthria 2 months post-VPS procedure as the treatment for long-standing overt ventriculomegaly in adults. History of head trauma and oral anticoagulant consumption was denied. As his mental state deteriorated, he also presented with a high fever; therefore, suspicion of cerebritis was raised and was later confirmed to be subacute SDH after a second radiology scan, prompting further surgical intervention. Burr-hole drainage was done, and the patient was discharged from the hospital with a favorable outcome. This case demonstrated that subdural accumulation of the blood may occur following VPS insertion, most likely caused by a sudden pressure release following the procedure. The near-misdiagnosis of subacute SDH proves a challenging diagnosis in such an underreported case.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"113-117"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176240","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 Case of Postpartum Reversible Cerebral Vasoconstriction Syndrome with Extracranial Artery Involvement. 产后可逆性脑血管收缩综合征伴颅外动脉受累1例。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-28 DOI: 10.4103/ANT.ANT_113_0025

Yu-Jyun Hong, Han-Cheng Wang

{"title":"A Case of Postpartum Reversible Cerebral Vasoconstriction Syndrome with Extracranial Artery Involvement.","authors":"Yu-Jyun Hong, Han-Cheng Wang","doi":"10.4103/ANT.ANT_113_0025","DOIUrl":"10.4103/ANT.ANT_113_0025","url":null,"abstract":"Abstract: Reversible cerebral vasoconstriction syndrome (RCVS) is generally recognized as an intracranial pathology. Involvement of the extracranial segments of the carotid or vertebral arteries (VAs) is rare. Here, we present a case of postpartum RCVS with extracranial VA involvement. A 31-year-old female developed postpartum thunderclap headaches with neck pain, followed by generalized seizures. The patient had been healthy with an uncomplicated pregnancy and delivery. Head computed tomography showed minimal right frontal convexity subarachnoid hemorrhage. Transcranial color-coded sonography disclosed increased mean flow velocity in multiple arteries, consistent with vasoconstriction, while the extracranial Doppler study revealed an abrupt change in the diameter of the left VA, indicative of dissection or vasospasm. Brain magnetic resonance imaging demonstrated nonenhancing T2/fluid-attenuated inversion recovery hyperintensities involving bilateral occipital, parietal, and frontal regions, with normal diffusion-weighted imaging signals, suggesting vasogenic edema. Magnetic resonance angiography showed multifocal segmental vasoconstriction of cerebral arteries, along with multiple irregular luminal narrowing of bilateral extracranial VAs. T1 fat-suppressed images revealed no features indicative of arterial dissection. The patient was treated with nimodipine as she was diagnosed with postpartum RCVS with extracranial artery involvement and concomitant posterior reversible encephalopathy syndrome. During an outpatient follow-up 1 month after discharge, she reported complete resolution of symptoms. It is crucial to acknowledge that cervical artery vasoconstriction, while rare, remains a possibility in RCVS. In patients having significant multiple extracranial artery vasoconstriction, even when they are the main or even the only arteries involved, RCVS should always be taken into consideration.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"102-105"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176232","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 Review of Spinocerebellar Ataxias in Taiwan. 台湾脊髓小脑共济失调的研究进展。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-06-05 DOI: 10.4103/ANT.ANT_113_0057

Chia-Ju Lee, Chin-San Liu

{"title":"A Review of Spinocerebellar Ataxias in Taiwan.","authors":"Chia-Ju Lee, Chin-San Liu","doi":"10.4103/ANT.ANT_113_0057","DOIUrl":"https://doi.org/10.4103/ANT.ANT_113_0057","url":null,"abstract":"Abstract: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous. Genetic testing has been performed in the Taiwanese population to determine the prevalence of SCAs in Taiwan. In general, the diseases can be classified as those caused by tandem repeats and those with conventional mutations. Among the SCAs caused by tandem repeats, polyglutamine SCAs, including SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17, are prevalent in Taiwan and worldwide. Other SCAs caused by non-CAG tandem repeats that have been investigated in Taiwan include SCA8, SCA12, SCA31, and SCA36. However, SCA12 and SCA31 seem either rare or absent in the Taiwanese population. On the other hand, there are SCAs caused by point mutations, duplications, insertions, and deletions. Taiwanese cases with SCAs related to ITPR1 gene mutations, SCA19/22, SCA28, SCA35, SCA47, and SCA48 have been studied and published. To generate a whole picture of SCAs in Taiwan, in this review, we summarized the prevalence of SCAs and described the characteristics of less common types of SCAs in Taiwanese patients.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":"34 2","pages":"55-63"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144236208","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

Aseptic Meningitis with Cerebellitis Secondary to Histiocytic Necrotizing Lymphadenitis (Kikuchi-Fujimoto Disease): A Case Report. 组织细胞坏死性淋巴结炎继发的无菌性脑膜炎伴小脑炎（菊池-藤本病）1例报告。

Acta neurologica Taiwanica Pub Date : 2025-04-01 Epub Date: 2025-05-28 DOI: 10.4103/ANT.ANT_113_0007

Tai-Yuan Tseng, Ya-Ju Lin

{"title":"Aseptic Meningitis with Cerebellitis Secondary to Histiocytic Necrotizing Lymphadenitis (Kikuchi-Fujimoto Disease): A Case Report.","authors":"Tai-Yuan Tseng, Ya-Ju Lin","doi":"10.4103/ANT.ANT_113_0007","DOIUrl":"10.4103/ANT.ANT_113_0007","url":null,"abstract":"Abstract: Kikuchi-Fujimoto disease (KFD) rarely involves the central or peripheral nervous system, including the cerebellum. Herein, we present a case of KFD, describing its notable clinical findings, diagnostic approach, management, and outcome. A 23-year-old woman received a diagnosis of KFD 5 months before being admitted to our hospital. She presented with fever, headache, and painful cervical lymphadenopathy; low-dose prednisolone (15 mg/day) was administered. She complained of explosive occipital headaches that awakened her in the middle of the night for 2 weeks. Vertigo/dizziness with projectile vomiting was also noted, followed by double vision, unsteady gait, and slower response on the day of admission. Neurological examination revealed drowsy consciousness, bilateral abducens palsy, scanning speech, left limb dysmetria, and truncal ataxia with marked neck stiffness. Brain magnetic resonance imaging (MRI) revealed focal swelling of the left cerebellum and leptomeningeal enhancement. Cerebrospinal fluid measurements revealed extremely high opening pressure (60 cm H 2 O) and lymphocyte-predominant pleocytosis. No other autoimmune or microbiological etiology was identified. We used dexamethasone (20 mg/day) and mannitol for symptomatic treatment, followed by a tapered dose of prednisolone. She recovered rapidly and became nearly symptom-free upon discharge. Follow-up brain MRI at 1.5 and 9 months indicated complete resolution of previous cerebellar swelling and leptomeningitis. The self-limiting nature of the patient's disease course and negative findings for other possible etiologies suggested the diagnosis of aseptic meningitis with cerebellitis secondary to KFD. Other possible diagnoses, including lymphoma, seemed unlikely after serial follow-up imaging.","PeriodicalId":93852,"journal":{"name":"Acta neurologica Taiwanica","volume":" ","pages":"106-108"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176234","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