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Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease). 报告糖原储存病VII型(Tarui病)的一个新的基因突变。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.4103/aian.aian_574_24
Manisha Gupta, Thuppanattumadam A Sangeeth, Ramya Sukrutha, Gautham A Udupi, Rashmi S Kumar, Nandeesh B Nanjegowda, Girish B Kulkarni
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引用次数: 0
Symptomatic and Prophylactic Dantrolene Treatment in a Case of RYR1 -Related Congenital Myopathy. 对一例与 RYR1 相关的先天性肌病进行对症和预防性丹曲林治疗
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-12 DOI: 10.4103/aian.aian_560_24
Hüseyin B Şenol, Ayşe I Polat, Adem Aydın, Ayşe S Hız, Uluç Yiş
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引用次数: 0
Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family. 一个印度家庭连续三代的齿状体-苍白球萎缩(DRPLA)。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-10-10 DOI: 10.4103/aian.aian_532_24
Ranjot Kaur, Ayush Agarwal, Divyani Garg, Ashvarya Shankar, Pooja Sharma, Tiyasha De, Mohammed Wasiq, Roopa Rajan, Ajay Garg, Mohammed Faruq, Achal K Srivastava
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引用次数: 0
P300 Event-Related Potential: A Surrogate Marker of Cognitive Dysfunction in Parkinson's Disease Patients with Psychosis. P300事件相关电位:帕金森病合并精神病患者认知功能障碍的替代标志物
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.4103/aian.aian_687_24
Rajnish Kumar Gupta, Mohit Gothwal, Abhishek Lenka, Nitish Kamble, Ravi Yadav, Shyam Sundar Arumugham, Pramod Kumar Pal, Shantala Hegde

Background and objectives: Psychosis is one of the major neuropsychiatric non-motor symptoms of Parkinson's disease (PD). Prolonged latency and decreased amplitude of the P300 event-related potential (ERP) is a potential neurophysiologic biomarker of deeper neurocognitive deficits in PD. We aimed to characterize electroencephalogram (EEG)/ERP parameters in PD patients with and without psychosis (PDP and PDNP, respectively), and to determine if such measures could act as endophenotypes for PD-associated psychosis (PDP).

Methods: We recruited 40 PD patients (all males), 20 PDP patients and 20 PDNP patients, aged between 39 and 65 years. The cognitive composite scores for attention and working memory were calculated. EEG/ERP recording was carried out following this, with eyes-closed resting-state EEG followed by an auditory oddball P300 task.

Results: The composite scores for both attention and working memory were significantly higher in the PDNP group compared to the PDP group. The mean reaction time during the oddball task in the PDP group was significantly higher than in the PDNP group. A trend of increased P300 amplitude was observed in the PDNP group compared to the PDP group; however, it was significant at CP4, P8, C4, TP8, T8, CZ, FC4, FT8, FZ, F4, and F8 electrode sites. Power spectral analysis indicated a significant increase in the EEG power of slow-frequency waves (delta, theta) across all the brain regions in the PDP group compared to the PDNP group.

Conclusions: Our results demonstrate the association between psychosis and the severity of neurocognitive deficits in PD patients assessed using electrophysiologic measures. P300 may be considered a potential neurophysiologic biomarker of psychosis in PD.

背景与目的:精神病是帕金森病(PD)的主要神经精神非运动症状之一。P300事件相关电位(ERP)的潜伏期延长和振幅降低是PD患者深层神经认知缺陷的潜在神经生理生物标志物。我们的目的是表征患有和不患有精神病的PD患者(分别为PDP和PDNP)的脑电图(EEG)/ERP参数,并确定这些指标是否可以作为PD相关精神病(PDP)的内表型。方法:招募PD患者40例(均为男性),PDP患者20例,PDNP患者20例,年龄39 ~ 65岁。计算注意力和工作记忆的认知综合得分。在此之后进行脑电图/ERP记录,闭眼静息状态脑电图,然后进行听觉古怪的P300任务。结果:PDNP组的注意力和工作记忆综合得分均显著高于PDP组。PDP组古怪任务的平均反应时间显著高于PDNP组。与PDP组相比,PDNP组P300振幅有增加的趋势;而在CP4、P8、C4、TP8、T8、CZ、FC4、FT8、FZ、F4和F8电极位点则有显著性差异。功率谱分析表明,与PDNP组相比,PDP组所有脑区慢频波(δ, θ)的脑电图功率显著增加。结论:我们的研究结果表明,PD患者的精神疾病与神经认知缺陷的严重程度之间存在关联。P300可能被认为是PD患者精神病的潜在神经生理生物标志物。
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引用次数: 0
Acquired Hepatocerebral Degeneration and Accumulation of Manganese. 后天性肝脑变性与锰的积累。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.4103/aian.aian_633_24
Sandhya Manorenj, S Sravan Kumar
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引用次数: 0
Anton's Syndrome Secondary to Metronidazole Toxicity. 甲硝唑中毒继发的安东综合征。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.4103/aian.aian_592_24
Chamanjot Kaur, Abeer Goel, Ritu Shree, Neeraj Balaini, Manoj K Goyal, Manish Modi, Chirag K Ahuja
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引用次数: 0
An Atypical Presentation of Vascular Eagle Syndrome. 血管鹰综合征的非典型表现。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-10-04 DOI: 10.4103/aian.aian_582_24
Muhammad Umair, Praveen Kesav, Syed I Hussain, Seby John
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引用次数: 0
Prevalence of Subjective Cognitive Decline and Mild Cognitive Impairment in Rural Versus Urban Population: Insights from India.
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-06 DOI: 10.4103/aian.aian_676_24
Dwaiti Roy, S Monisha, G Sandhya, Jonas S Sundarakumar, Thomas G Issac
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引用次数: 0
Ventriculoperitoneal Shunt Overdrainage Manifesting as Rapidly Evolving Cognitive Decline - A Rare Complication.
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-29 DOI: 10.4103/aian.aian_621_24
Pushkar Pazhani, Saranya B Gomathy, M S Gopalakrishnan, Jayaram Saibaba, Manoj Manyem, Ramkumar Sugumaran, Sunil K Narayan
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引用次数: 0
Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings. 1型Wolfram综合征的新表现为颅内出血和纵向广泛横断面脊髓炎:神经影像学和血管造影结果。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-12-04 DOI: 10.4103/aian.aian_613_24
Ravi P Singh, S S Jayanth, K T Seetam, Vikram V Holla, H R Arvinda, M Netravathi

Abstract: Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in Type 2 WS (WS2), there is a distinctive bleeding tendency that is exclusive to WS2, with no documented occurrences in Type 1 WS (WS1). Extensive documentation exists regarding various neurologic manifestations of this syndrome; however, as of now, there is no reported mention of intracranial hemorrhage, a rarity within this condition.

摘要:Wolfram综合征(WS)是一种罕见的遗传性神经退行性疾病,以糖尿病、视神经萎缩、尿崩症、感音神经性听力损失为主要特征,并伴有多种系统性表现。晚期病例表现为广泛的脑萎缩。虽然出血倾向在2型WS (WS2)中并不常见,但有一种独特的出血倾向是WS2独有的,在1型WS (WS1)中没有记录。关于该综合征的各种神经系统表现存在广泛的文献记录;然而,到目前为止,没有报道提到颅内出血,这在这种情况下是罕见的。
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引用次数: 0
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Annals of Indian Academy of Neurology
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