Vikram V Holla, Debjyoti Dhar, Prashant Phulpagar, M M Samim, Sneha D Kamath, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal
{"title":"prkn基因相关帕金森病：来自第三中心的经验和亚洲队列的文献回顾。","authors":"Vikram V Holla, Debjyoti Dhar, Prashant Phulpagar, M M Samim, Sneha D Kamath, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal","doi":"10.1017/cjn.2024.366","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong><i>PRKN</i>-related parkinsonism represents one of the most common types of genetically determined Parkinson's disease (PD). However, the literature among the Asian ethnicity, particularly in the Indian context, is limited.</p><p><strong>Objective: </strong>To study the clinico-genetic profile of patients with <i>PRKN</i>-related parkinsonism and to review the previously reported cases of <i>PRKN</i>-related parkinsonism from Asia.</p><p><strong>Methods: </strong>A retrospective chart review from a tertiary neurology centre of patients with genetically confirmed <i>PRKN</i>-related parkinsonism. Additionally, we consolidated the Asian cohort from a detailed systematic review of the literature. We utilised the Movement Disorders Society gene cohort for comparison with the world literature.</p><p><strong>Results: </strong>We recruited 16 cases (males = 10, Early onset Parkinson disease (21 to <50 years age at onset)) of <i>PRKN</i>-related parkinsonism with a median age at onset of 28.5 years (range 14-46). Symptoms included parkinsonism (<i>n</i> = 15), dystonia (<i>n</i> = 10), postural instability (<i>n</i> = 7), freezing of gait (<i>n</i> = 5) and non-motor symptoms (NMS) (<i>n</i> = 10). The commonest symptom at onset was tremors (<i>n</i> = 10). Levodopa responsiveness was observed in all cases with drug-induced dyskinesia in eight (50%). Thirteen cases were homozygous, while three were compound heterozygotes, resulting in 19 variants (novel = 5). Exon deletion was the most common (<i>n</i> = 12). The extended Asian cohort comprising 294 cases had a high prevalence of EOPD (<i>n</i> = 186/257, 72.4%) and familial cases (<i>n</i> = 166/252, 65.9%). Deletion/duplication was the common mutation detected (<i>n</i> = 215, 73.1%). The presumed familial cases had a significantly higher frequency of rest tremors, bradykinesia, postural instability, NMS, dyskinesia and sleep disorders.</p><p><strong>Conclusion: </strong>This largest single-centre study from India adds 16 new cases and five novel variants to <i>PRKN</i> literature. In addition, it consolidates the Asian cohort of <i>PRKN</i> elucidating its unique attributes.</p>","PeriodicalId":56134,"journal":{"name":"Canadian Journal of Neurological Sciences","volume":" ","pages":"1-12"},"PeriodicalIF":2.2000,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>PRKN</i>-Gene-Related Parkinsonism: An Experience from a Tertiary Centre and Literature Review of Asian Cohort.\",\"authors\":\"Vikram V Holla, Debjyoti Dhar, Prashant Phulpagar, M M Samim, Sneha D Kamath, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal\",\"doi\":\"10.1017/cjn.2024.366\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong><i>PRKN</i>-related parkinsonism represents one of the most common types of genetically determined Parkinson's disease (PD). However, the literature among the Asian ethnicity, particularly in the Indian context, is limited.</p><p><strong>Objective: </strong>To study the clinico-genetic profile of patients with <i>PRKN</i>-related parkinsonism and to review the previously reported cases of <i>PRKN</i>-related parkinsonism from Asia.</p><p><strong>Methods: </strong>A retrospective chart review from a tertiary neurology centre of patients with genetically confirmed <i>PRKN</i>-related parkinsonism. Additionally, we consolidated the Asian cohort from a detailed systematic review of the literature. We utilised the Movement Disorders Society gene cohort for comparison with the world literature.</p><p><strong>Results: </strong>We recruited 16 cases (males = 10, Early onset Parkinson disease (21 to <50 years age at onset)) of <i>PRKN</i>-related parkinsonism with a median age at onset of 28.5 years (range 14-46). Symptoms included parkinsonism (<i>n</i> = 15), dystonia (<i>n</i> = 10), postural instability (<i>n</i> = 7), freezing of gait (<i>n</i> = 5) and non-motor symptoms (NMS) (<i>n</i> = 10). The commonest symptom at onset was tremors (<i>n</i> = 10). Levodopa responsiveness was observed in all cases with drug-induced dyskinesia in eight (50%). Thirteen cases were homozygous, while three were compound heterozygotes, resulting in 19 variants (novel = 5). Exon deletion was the most common (<i>n</i> = 12). The extended Asian cohort comprising 294 cases had a high prevalence of EOPD (<i>n</i> = 186/257, 72.4%) and familial cases (<i>n</i> = 166/252, 65.9%). Deletion/duplication was the common mutation detected (<i>n</i> = 215, 73.1%). The presumed familial cases had a significantly higher frequency of rest tremors, bradykinesia, postural instability, NMS, dyskinesia and sleep disorders.</p><p><strong>Conclusion: </strong>This largest single-centre study from India adds 16 new cases and five novel variants to <i>PRKN</i> literature. In addition, it consolidates the Asian cohort of <i>PRKN</i> elucidating its unique attributes.</p>\",\"PeriodicalId\":56134,\"journal\":{\"name\":\"Canadian Journal of Neurological Sciences\",\"volume\":\" \",\"pages\":\"1-12\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2025-01-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Canadian Journal of Neurological Sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1017/cjn.2024.366\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Canadian Journal of Neurological Sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1017/cjn.2024.366","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
PRKN-Gene-Related Parkinsonism: An Experience from a Tertiary Centre and Literature Review of Asian Cohort.
Background: PRKN-related parkinsonism represents one of the most common types of genetically determined Parkinson's disease (PD). However, the literature among the Asian ethnicity, particularly in the Indian context, is limited.
Objective: To study the clinico-genetic profile of patients with PRKN-related parkinsonism and to review the previously reported cases of PRKN-related parkinsonism from Asia.
Methods: A retrospective chart review from a tertiary neurology centre of patients with genetically confirmed PRKN-related parkinsonism. Additionally, we consolidated the Asian cohort from a detailed systematic review of the literature. We utilised the Movement Disorders Society gene cohort for comparison with the world literature.
Results: We recruited 16 cases (males = 10, Early onset Parkinson disease (21 to <50 years age at onset)) of PRKN-related parkinsonism with a median age at onset of 28.5 years (range 14-46). Symptoms included parkinsonism (n = 15), dystonia (n = 10), postural instability (n = 7), freezing of gait (n = 5) and non-motor symptoms (NMS) (n = 10). The commonest symptom at onset was tremors (n = 10). Levodopa responsiveness was observed in all cases with drug-induced dyskinesia in eight (50%). Thirteen cases were homozygous, while three were compound heterozygotes, resulting in 19 variants (novel = 5). Exon deletion was the most common (n = 12). The extended Asian cohort comprising 294 cases had a high prevalence of EOPD (n = 186/257, 72.4%) and familial cases (n = 166/252, 65.9%). Deletion/duplication was the common mutation detected (n = 215, 73.1%). The presumed familial cases had a significantly higher frequency of rest tremors, bradykinesia, postural instability, NMS, dyskinesia and sleep disorders.
Conclusion: This largest single-centre study from India adds 16 new cases and five novel variants to PRKN literature. In addition, it consolidates the Asian cohort of PRKN elucidating its unique attributes.
期刊介绍：
Canadian Neurological Sciences Federation The Canadian Journal of Neurological Sciences is the official publication of the four member societies of the Canadian Neurological Sciences Federation -- Canadian Neurological Society (CNS), Canadian Association of Child Neurology (CACN), Canadian Neurosurgical Society (CNSS), Canadian Society of Clinical Neurophysiologists (CSCN). The Journal is a widely circulated internationally recognized medical journal that publishes peer-reviewed articles. The Journal is published in January, March, May, July, September, and November in an online only format. The first Canadian Journal of Neurological Sciences (the Journal) was published in 1974 in Winnipeg. In 1981, the Journal became the official publication of the member societies of the CNSF.
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