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Metabotropic glutamate receptors: Allosteric structural modulation and new treatments for anxiety disorders. 代谢性谷氨酸受体:变构结构调节和焦虑障碍的新疗法。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20240062
Madaniah O Zakari

Anxiety disorders are psychiatric ailments that affect people throughout the world. Several studies have revealed that the development of anxiety is affected by changes in glutamatergic neurotransmission. Metabotropic glutamate receptors (mGluRs) can be allosterically modified, offering a new strategy for developing specific therapeutic agents that affect the cell membrane. Allosteric modulators have many advantages over other therapeutic options. In the field of stress treatment modulation, they can maintain the properties of natural glutamatergic neurotransmission. This review describes the design of allosteric modulators and the advantages of this class of compounds over current stress drugs.

焦虑症是影响全世界人们的精神疾病。一些研究表明,焦虑的发展受谷氨酸神经传递变化的影响。代谢性谷氨酸受体(mGluRs)可以进行变构修饰,为开发影响细胞膜的特异性治疗剂提供了新的策略。变构调节剂比其他治疗方法有许多优点。在应激调节领域,它们能维持天然谷氨酸能神经传递的特性。本文综述了变构调节剂的设计和这类化合物相对于现有应激药物的优势。
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引用次数: 0
Impact of Qihuang needle therapy combined with flunarizine hydrochloride for vertigo in vestibular migraine. 七黄针联合盐酸氟桂利嗪治疗前庭偏头痛眩晕的疗效观察。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20240142
Dan-Ping Chen, Chao-Jie Yang, Zhong-Xing Peng, Zhi-Hua Zhou, Rong-Jiao You, Xin-Yu Li, Ai-Qun Liu, Zhen-Hu Chen

Objectives: To evaluate the impact of QHN combined with FH versus FH monotherapy on vestibular migraine (VM) METHODS: The study included patients treated for VM with either QHN+FH or FH alone between September 2022 and September 2023 at The First Affiliated Hospital of Guangdong Pharmaceutical University in Guangzhou, Guangdong Province, China. The primary outcome was the change of Dizziness Handicap Inventory (DHI) before and after 8 weeks of treatment. Secondary outcomes included changes in the Video Head Impulse Test (v-HIT) results before and after 8 weeks of treatment, and the recurrence of vertigo attacks at 4 and 8 weeks post-treatment.

Results: This study included 59 patients, with 29 receiving QHN+FH treatment and 30 receiving FH monotherapy. Both the QHN+FH and FH groups showed significant reductions in DHI scores before and after treatment. After treatment, the QHN+FH group demonstrated an improvement in v-HIT (0.74±0.14 vs. 0.64±0.14, p<0.05), while the FH group showed no significant changes. At 4 weeks, the recurrence rate of vertigo in the QHN+FH group was lower than that in the FH group (13.79% vs. 43.33%), and at 8 weeks, it remained lower (34.48% vs. 53.33%).

Conclusion: This study suggested that QHN combined with FH might had a potential advantage in improving treatment outcomes and reducing short-term recurrence of vertigo in VM patients.

目的:评估QHN联合FH与FH单药治疗前庭偏头痛(VM)的影响。方法:该研究纳入了2022年9月至2023年9月在中国广东省广州市广东药科大学第一附属医院接受QHN+FH或FH单独治疗VM的患者。主要观察指标为治疗前后头晕障碍量表(DHI)的变化。次要结果包括治疗前和治疗后8周视频头部脉冲测试(v-HIT)结果的变化,以及治疗后4周和8周眩晕发作的复发。结果:本研究纳入59例患者,其中QHN+FH治疗29例,FH单药治疗30例。QHN+FH组和FH组治疗前后DHI评分均显著降低。治疗后,QHN+FH组显示v-HIT改善(0.74±0.14 vs. 0.64±0.14)。结论:本研究提示QHN联合FH可能在改善VM患者治疗结果和减少眩晕短期复发方面具有潜在优势。
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引用次数: 0
Are patients undergoing surgery for early-stage cancer at risk of persistent opioid use? 接受早期癌症手术的患者是否有持续使用阿片类药物的风险?
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01
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引用次数: 0
BREASTFEEDING IN INDONESIA ON THE RISE, BUT MOTHERS NEED MORE SUPPORT. 印度尼西亚的母乳喂养率正在上升,但母亲们需要更多的支持。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01
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引用次数: 0
A narrative review of clinical practice guidelines for the application of physical therapy and rehabilitation procedures in the management of multiple sclerosis. 在多发性硬化症管理中应用物理治疗和康复程序的临床实践指南的叙述性回顾。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20250054
Abdullah I Alhusayni

Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by neuroinflammation and progressive neurodegeneration, leading to significant physical and cognitive impairments. Rehabilitation, particularly physical therapy, has emerged as a crucial component in managing MS-related disability by improving mobility, reducing fatigue, and enhancing overall quality of life. This narrative review investigates current international guidelines on physical therapy and rehabilitation for MS. Literature search in databases (January 2010 until August 2025) resulted in three guidelines that met the inclusion criteria. Evidence suggests that structured aerobic and resistance training programmes, combined with balance and flexibility exercises, contribute significantly to maintaining functional independence. Additionally, assistive technologies offer promising advances in patient-centred care. However, challenges such as limited accessibility, variability in disease presentation, and adherence to rehabilitation programmes pose significant barriers. This narrative review highlights the need for comprehensive and multidisciplinary clinical guidelines to optimize physical therapy interventions and improve the long-term well-being of MS patients.

多发性硬化症(MS)是一种以神经炎症和进行性神经变性为特征的慢性自身免疫性疾病,导致严重的身体和认知障碍。康复,特别是物理治疗,已经成为管理ms相关残疾的关键组成部分,可以改善活动能力,减少疲劳,提高整体生活质量。这篇叙述性综述调查了目前国际上针对多发性硬化症的物理治疗和康复指南。在数据库中进行文献检索(2010年1月至2025年8月),得到了三个符合纳入标准的指南。有证据表明,有组织的有氧和阻力训练计划,结合平衡和柔韧性训练,对保持功能独立性有重要作用。此外,辅助技术为以患者为中心的护理提供了有希望的进步。然而,诸如有限的可及性、疾病表现的可变性以及对康复规划的依从性等挑战构成了重大障碍。这篇叙述性综述强调需要全面和多学科的临床指南来优化物理治疗干预和改善MS患者的长期福祉。
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引用次数: 0
An observational study on the clinical profile, management approaches, and outcomes of adult patients admitted to the intensive care unit for status epilepticus. 一项关于因癫痫持续状态入住重症监护病房的成年患者的临床概况、管理方法和结局的观察性研究。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20240134
Hasan M Al-Dorzi, Eman Balahmar, Razan A Almulhem, Raghad A Almutairi, Danah H Aleesa, Dareen S Ashgar, Nazish Masud

Objectives: Status epilepticus (SE) is a serious neurological condition with a high risk of complications and mortality. We described adult patients who required admission to the intensive care unit (ICU) for SE and assessed their prognosis.

Methods: We retrospectively analyzed consecutive adult ICU admissions for SE between 2016 and 2021. We performed multivariable logistic regression to determine the predictors of an unfavorable outcome (discharge Glasgow Coma Scale <14 or death).

Results: We studied 115 patients (median age 38 years; males 62.6%; prior antiepileptic therapy 59.1%; median presenting Glasgow Coma Scale 7; median Status Epilepticus Severity Score 4). Brain computed tomography revealed acute/sub-acute stroke in 5.2% of cases, intracranial hemorrhage in 2.6%, and brain tumors in 5.2%. Cerebrospinal fluid analysis in 41 patients detected bacteria or herpes simplex virus in 4. Intravenous lorazepam was used to abort seizures in 80.0% of patients (median dose 3 mg). Mechanical ventilation was needed for 87 patients for a median of 4 days. Thirty-five patients (30.4%) experienced an unfavorable outcome, and hospital mortality was 5.2%. Infections present on admission were associated with an unfavorable outcome (odds ratio 3.61, 95% confidence interval 1.35-9.63).

Conclusion: Most ICU admissions for SE involved young patients with few having abnormalities on brain imaging and cerebrospinal fluid and most needing intubation. Hospital mortality was 5.2% with the presence of an infection on admission linked to an unfavorable outcome.

目的:癫痫持续状态(SE)是一种严重的神经系统疾病,具有很高的并发症和死亡率。我们描述了因SE需要入住重症监护病房(ICU)的成年患者,并评估了他们的预后。方法:我们回顾性分析2016年至2021年间连续入住ICU的SE成人患者。我们采用多变量logistic回归来确定不良结果的预测因子(出院格拉斯哥昏迷量表结果:我们研究了115例患者(中位年龄38岁;男性62.6%;既往抗癫痫治疗59.1%;格拉斯哥昏迷量表中位数为7;癫痫持续状态严重程度评分中位数为4)。脑部计算机断层扫描显示急性/亚急性脑卒中5.2%,颅内出血2.6%,脑肿瘤5.2%。41例脑脊液分析中检出细菌或单纯疱疹病毒4例。80.0%的患者静脉使用劳拉西泮中止癫痫发作(中位剂量3mg)。87例患者需要机械通气,平均时间为4天。35例患者(30.4%)出现不良结局,住院死亡率为5.2%。入院时出现感染与不良结局相关(优势比3.61,95%可信区间1.35-9.63)。结论:入住ICU的SE患者多为年轻患者,脑显像及脑脊液异常少,需要插管的多。住院死亡率为5.2%,入院时感染与不良预后相关。
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引用次数: 0
ARE PATIENTS WITH ADVANCED CANCER RECEIVING TREATMENT ALIGNED WITH THEIR GOALS? 晚期癌症患者接受的治疗是否符合他们的目标?
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01
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引用次数: 0
Beyond Seizures: The hidden burden of fatigue in epilepsy. 癫痫发作之外:癫痫中隐藏的疲劳负担。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20250011
Alia Mr Fallatah, Malak R Albadrani, Sarah A Alsalman, Weam K Almasuad, Abdulrahim M Hamhom, Sumayah M Almarshedy, Faisal A Alsallom, Fawzya A Bamogaddam, Majed H Alhameed, Mubarak M Aldosari

Objectives: To determine the prevalence of fatigue and depression in patients with epilepsy (PWE), explore their relationship, and identify the factors associated with fatigue in this population.

Methods: This retrospective cross-sectional study involved adult PWE at King Fahad Medical City, Riyadh, Saudi Arabia, from April to July 2023. The Arabic version of the Fatigue Severity Scale questionnaire was used to estimate the presence and severity of fatigue. The Patient Health Questionnaire-9 was used for screening depression. The demographic and clinical data of the patients were analyzed.

Results: In total, 259 PWE were enrolled. Of these, 66.8% had focal epilepsy and 39.7% had controlled seizures. Fatigue was prevalent in 34.4% of PWE, of whom only 10% had no depression. Significant correlations were observed between fatigue and female sex (p=0.002), uncontrolled seizures (p<0.001), and missed medication doses (p=0.03). Additionally, a considerable positive correlation was observed between fatigue and depression scores (r=0.5, p<0.001).

Conclusion: Fatigue is prevalent among PWE. This study emphasizes the importance of assessing and managing fatigue and depression to improve the quality of life (QOL) of PWE. Further research in larger populations is recommended to identify the predictors and effective management strategies for fatigue in PWE.

目的:了解癫痫患者(PWE)疲劳和抑郁的患病率,探讨两者之间的关系,并确定该人群中疲劳的相关因素。方法:本回顾性横断面研究涉及沙特阿拉伯利雅得法赫德国王医疗城2023年4月至7月的成人PWE。使用阿拉伯语版本的疲劳严重程度量表问卷来估计疲劳的存在和严重程度。患者健康问卷-9用于筛查抑郁症。对患者的人口学和临床资料进行分析。结果:共纳入259例PWE。其中,66.8%为局灶性癫痫,39.7%为可控癫痫。34.4%的PWE普遍存在疲劳,其中只有10%没有抑郁。疲劳与女性(p=0.002)、不受控制的癫痫发作(pp=0.03)之间存在显著相关性。此外,疲劳与抑郁评分之间存在显著的正相关(r=0.5, p)。本研究强调评估和管理疲劳和抑郁对改善PWE患者的生活质量(QOL)的重要性。建议在更大的人群中进行进一步的研究,以确定PWE疲劳的预测因素和有效的管理策略。
{"title":"Beyond Seizures: The hidden burden of fatigue in epilepsy.","authors":"Alia Mr Fallatah, Malak R Albadrani, Sarah A Alsalman, Weam K Almasuad, Abdulrahim M Hamhom, Sumayah M Almarshedy, Faisal A Alsallom, Fawzya A Bamogaddam, Majed H Alhameed, Mubarak M Aldosari","doi":"10.17712/nsj.2025.4.20250011","DOIUrl":"10.17712/nsj.2025.4.20250011","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the prevalence of fatigue and depression in patients with epilepsy (PWE), explore their relationship, and identify the factors associated with fatigue in this population.</p><p><strong>Methods: </strong>This retrospective cross-sectional study involved adult PWE at King Fahad Medical City, Riyadh, Saudi Arabia, from April to July 2023. The Arabic version of the Fatigue Severity Scale questionnaire was used to estimate the presence and severity of fatigue. The Patient Health Questionnaire-9 was used for screening depression. The demographic and clinical data of the patients were analyzed.</p><p><strong>Results: </strong>In total, 259 PWE were enrolled. Of these, 66.8% had focal epilepsy and 39.7% had controlled seizures. Fatigue was prevalent in 34.4% of PWE, of whom only 10% had no depression. Significant correlations were observed between fatigue and female sex (<i>p</i>=0.002), uncontrolled seizures (<i>p</i><0.001), and missed medication doses (<i>p</i>=0.03). Additionally, a considerable positive correlation was observed between fatigue and depression scores (r=0.5, <i>p</i><0.001).</p><p><strong>Conclusion: </strong>Fatigue is prevalent among PWE. This study emphasizes the importance of assessing and managing fatigue and depression to improve the quality of life (QOL) of PWE. Further research in larger populations is recommended to identify the predictors and effective management strategies for fatigue in PWE.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"278-285"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12707333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality of life, depression, and anxiety in brain tumor patients following surgical resection at a tertiary care center. 三级护理中心脑肿瘤患者手术切除后的生活质量、抑郁和焦虑。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2025.4.20240140
Mohammed H Bogari, Jalal A Zahhar, Alwaleed K Aloufi, Omar H Algahtani, Yossef A Zahhar, Hussin M Kheshaifati, Abdulhadi Y Algahtani

Objectives: To address the gap in understanding post-surgical quality of life, depression, and anxiety among brain tumor patients in Saudi Arabia.

Methods: This cross-sectional study was conducted at King Abdulaziz Medical City in Jeddah, Kingdom of Saudi Arabia. A total of 160 adult brain tumor patients who underwent surgical resection between January 2021 and October 2024 were included. Quality of life (QoL) was assessed using the Functional Assessment of Chronic Illness Therapy (FACIT) questionnaire, and anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS).

Results: Among the 160 patients, high-grade gliomas were the most common tumor type (35%), followed by meningiomas (27.5%). WHO grade 4 tumors were most prevalent (43.12%), followed by grade 1 (35.62%). Patients with high-grade gliomas and metastatic tumors reported the lowest QoL scores. Interestingly, low-grade glioma patients showed higher levels of anxiety (44.4%) and depression (33.3%). In contrast, patients with meningiomas and pituitary adenomas had better QoL outcomes.

Conclusion: Patients with high-grade gliomas experienced poorer QoL postoperatively. However, good QoL is still achievable, particularly among those with benign tumors such as meningiomas and pituitary adenomas.

目的:了解沙特阿拉伯脑肿瘤患者术后生活质量、抑郁和焦虑的差异。方法:本横断面研究在沙特阿拉伯王国吉达的阿卜杜勒阿齐兹国王医疗城进行。共纳入了160名在2021年1月至2024年10月期间接受手术切除的成年脑肿瘤患者。采用慢性疾病治疗功能评估问卷(FACIT)评估生活质量(QoL),采用医院焦虑抑郁量表(HADS)测量焦虑和抑郁。结果:160例患者中,高级别胶质瘤是最常见的肿瘤类型(35%),其次是脑膜瘤(27.5%)。WHO 4级肿瘤最常见(43.12%),其次是1级肿瘤(35.62%)。高级别胶质瘤和转移瘤患者的生活质量评分最低。有趣的是,低级别胶质瘤患者表现出更高水平的焦虑(44.4%)和抑郁(33.3%)。相比之下,脑膜瘤和垂体腺瘤患者的生活质量更好。结论:高级别胶质瘤患者术后生活质量较差。然而,良好的生活质量仍然是可以实现的,特别是那些良性肿瘤,如脑膜瘤和垂体腺瘤。
{"title":"Quality of life, depression, and anxiety in brain tumor patients following surgical resection at a tertiary care center.","authors":"Mohammed H Bogari, Jalal A Zahhar, Alwaleed K Aloufi, Omar H Algahtani, Yossef A Zahhar, Hussin M Kheshaifati, Abdulhadi Y Algahtani","doi":"10.17712/nsj.2025.4.20240140","DOIUrl":"10.17712/nsj.2025.4.20240140","url":null,"abstract":"<p><strong>Objectives: </strong>To address the gap in understanding post-surgical quality of life, depression, and anxiety among brain tumor patients in Saudi Arabia.</p><p><strong>Methods: </strong>This cross-sectional study was conducted at King Abdulaziz Medical City in Jeddah, Kingdom of Saudi Arabia. A total of 160 adult brain tumor patients who underwent surgical resection between January 2021 and October 2024 were included. Quality of life (QoL) was assessed using the Functional Assessment of Chronic Illness Therapy (FACIT) questionnaire, and anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS).</p><p><strong>Results: </strong>Among the 160 patients, high-grade gliomas were the most common tumor type (35%), followed by meningiomas (27.5%). WHO grade 4 tumors were most prevalent (43.12%), followed by grade 1 (35.62%). Patients with high-grade gliomas and metastatic tumors reported the lowest QoL scores. Interestingly, low-grade glioma patients showed higher levels of anxiety (44.4%) and depression (33.3%). In contrast, patients with meningiomas and pituitary adenomas had better QoL outcomes.</p><p><strong>Conclusion: </strong>Patients with high-grade gliomas experienced poorer QoL postoperatively. However, good QoL is still achievable, particularly among those with benign tumors such as meningiomas and pituitary adenomas.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"294-303"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12707334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity. 沙特人口中腓骨肌萎缩症的遗传特征:一项强调血缘关系的回顾性研究。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.17712/nsj.2021.4.20250058
Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Muteb M Alqahtani, Mutrik J Almughni, Mohammed A Almuqbil

Objectives: To identify the genetic landscape of CMT in Saudi Arabia.

Methods: This retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included.

Results: Genetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were MTMR2, PMP22, and FGD4, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode of inheritance was autosomal recessive CMT1, affecting 12 out of 17 cases (70.6%). Five novel variants associated with CMT were identified in MTMR2, PRX, SBF1, and HSPB8.

Conclusion: This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.

目的:确定沙特阿拉伯CMT的遗传景观。方法:本回顾性队列研究纳入了3个城市国民警卫队卫生事务医院2016年至2022年诊断为CMT的43例患者。所有遗传诊断的CMT病例均被纳入。结果:43例CMT病例中有23例(53%)进行了基因检测,23例患者中有17例(73.9%)发现与CMT相关的临床相关遗传变异。该队列中最常见的基因是MTMR2、PMP22和FGD4,显著的部落内突变表明亲缘关系的强烈影响。主要遗传方式为常染色体隐性遗传CMT1, 17例中有12例(70.6%)。在MTMR2、PRX、SBF1和HSPB8中发现了5种与CMT相关的新变异。结论:本研究揭示了沙特人群中CMT的独特遗传特征,与其他人群相比,CMT常染色体隐性遗传形式的患病率更高。研究结果强调了将基因检测纳入常规临床实践的重要性,特别是在高血缘率人群中。
{"title":"Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.","authors":"Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Muteb M Alqahtani, Mutrik J Almughni, Mohammed A Almuqbil","doi":"10.17712/nsj.2021.4.20250058","DOIUrl":"10.17712/nsj.2021.4.20250058","url":null,"abstract":"<p><strong>Objectives: </strong>To identify the genetic landscape of CMT in Saudi Arabia.</p><p><strong>Methods: </strong>This retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included.</p><p><strong>Results: </strong>Genetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were <i>MTMR2</i>, <i>PMP22</i>, and <i>FGD4</i>, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode of inheritance was autosomal recessive CMT1, affecting 12 out of 17 cases (70.6%). Five novel variants associated with CMT were identified in <i>MTMR2</i>, <i>PRX</i>, <i>SBF1</i>, and <i>HSPB8</i>.</p><p><strong>Conclusion: </strong>This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"304-311"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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