Pub Date : 2025-01-01Epub Date: 2024-11-13DOI: 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
{"title":"Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).","authors":"Manisha Gupta, Thuppanattumadam A Sangeeth, Ramya Sukrutha, Gautham A Udupi, Rashmi S Kumar, Nandeesh B Nanjegowda, Girish B Kulkarni","doi":"10.4103/aian.aian_574_24","DOIUrl":"10.4103/aian.aian_574_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"128-131"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142976880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-11-12DOI: 10.4103/aian.aian_560_24
Hüseyin B Şenol, Ayşe I Polat, Adem Aydın, Ayşe S Hız, Uluç Yiş
{"title":"Symptomatic and Prophylactic Dantrolene Treatment in a Case of RYR1 -Related Congenital Myopathy.","authors":"Hüseyin B Şenol, Ayşe I Polat, Adem Aydın, Ayşe S Hız, Uluç Yiş","doi":"10.4103/aian.aian_560_24","DOIUrl":"10.4103/aian.aian_560_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"126-128"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-10-10DOI: 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
{"title":"Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.","authors":"Ranjot Kaur, Ayush Agarwal, Divyani Garg, Ashvarya Shankar, Pooja Sharma, Tiyasha De, Mohammed Wasiq, Roopa Rajan, Ajay Garg, Mohammed Faruq, Achal K Srivastava","doi":"10.4103/aian.aian_532_24","DOIUrl":"10.4103/aian.aian_532_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"120-122"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"P300 Event-Related Potential: A Surrogate Marker of Cognitive Dysfunction in Parkinson's Disease Patients with Psychosis.","authors":"Rajnish Kumar Gupta, Mohit Gothwal, Abhishek Lenka, Nitish Kamble, Ravi Yadav, Shyam Sundar Arumugham, Pramod Kumar Pal, Shantala Hegde","doi":"10.4103/aian.aian_687_24","DOIUrl":"10.4103/aian.aian_687_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"92-98"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-02DOI: 10.4103/aian.aian_633_24
Sandhya Manorenj, S Sravan Kumar
{"title":"Acquired Hepatocerebral Degeneration and Accumulation of Manganese.","authors":"Sandhya Manorenj, S Sravan Kumar","doi":"10.4103/aian.aian_633_24","DOIUrl":"10.4103/aian.aian_633_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"107-109"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-11-13DOI: 10.4103/aian.aian_592_24
Chamanjot Kaur, Abeer Goel, Ritu Shree, Neeraj Balaini, Manoj K Goyal, Manish Modi, Chirag K Ahuja
{"title":"Anton's Syndrome Secondary to Metronidazole Toxicity.","authors":"Chamanjot Kaur, Abeer Goel, Ritu Shree, Neeraj Balaini, Manoj K Goyal, Manish Modi, Chirag K Ahuja","doi":"10.4103/aian.aian_592_24","DOIUrl":"10.4103/aian.aian_592_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"133-135"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142976703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-10-04DOI: 10.4103/aian.aian_582_24
Muhammad Umair, Praveen Kesav, Syed I Hussain, Seby John
{"title":"An Atypical Presentation of Vascular Eagle Syndrome.","authors":"Muhammad Umair, Praveen Kesav, Syed I Hussain, Seby John","doi":"10.4103/aian.aian_582_24","DOIUrl":"10.4103/aian.aian_582_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"131-132"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-06DOI: 10.4103/aian.aian_676_24
Dwaiti Roy, S Monisha, G Sandhya, Jonas S Sundarakumar, Thomas G Issac
{"title":"Prevalence of Subjective Cognitive Decline and Mild Cognitive Impairment in Rural Versus Urban Population: Insights from India.","authors":"Dwaiti Roy, S Monisha, G Sandhya, Jonas S Sundarakumar, Thomas G Issac","doi":"10.4103/aian.aian_676_24","DOIUrl":"https://doi.org/10.4103/aian.aian_676_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"28 1","pages":"150-152"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-29DOI: 10.4103/aian.aian_621_24
Pushkar Pazhani, Saranya B Gomathy, M S Gopalakrishnan, Jayaram Saibaba, Manoj Manyem, Ramkumar Sugumaran, Sunil K Narayan
{"title":"Ventriculoperitoneal Shunt Overdrainage Manifesting as Rapidly Evolving Cognitive Decline - A Rare Complication.","authors":"Pushkar Pazhani, Saranya B Gomathy, M S Gopalakrishnan, Jayaram Saibaba, Manoj Manyem, Ramkumar Sugumaran, Sunil K Narayan","doi":"10.4103/aian.aian_621_24","DOIUrl":"10.4103/aian.aian_621_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"137-139"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143057827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-04DOI: 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.
{"title":"Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.","authors":"Ravi P Singh, S S Jayanth, K T Seetam, Vikram V Holla, H R Arvinda, M Netravathi","doi":"10.4103/aian.aian_613_24","DOIUrl":"https://doi.org/10.4103/aian.aian_613_24","url":null,"abstract":"<p><strong>Abstract: </strong>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.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}