Baikuntha Panigrahi, Divya Madathiparambil Radhakrishnan, Arti Saini, Venugopalan Y Vishnu, Anu Gupta, Awadh Kishor Pandit, Ayush Agarwal, Divyani Garg, Mamta Bhushan Singh, Rohit Bhatia, Padma Srivastava, Achal Kumar Srivastava, Roopa Rajan
{"title":"临床推理：一名患有共济失调、肌张力障碍和眼球运动异常的 50 岁男子。","authors":"Baikuntha Panigrahi, Divya Madathiparambil Radhakrishnan, Arti Saini, Venugopalan Y Vishnu, Anu Gupta, Awadh Kishor Pandit, Ayush Agarwal, Divyani Garg, Mamta Bhushan Singh, Rohit Bhatia, Padma Srivastava, Achal Kumar Srivastava, Roopa Rajan","doi":"10.1212/WNL.0000000000210046","DOIUrl":null,"url":null,"abstract":"<p><p>A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements. In this era of genomic testing, our case highlights the role of clinical phenotyping and the utility of whole-exome sequencing in ataxias.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"103 11","pages":"e210046"},"PeriodicalIF":7.7000,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.\",\"authors\":\"Baikuntha Panigrahi, Divya Madathiparambil Radhakrishnan, Arti Saini, Venugopalan Y Vishnu, Anu Gupta, Awadh Kishor Pandit, Ayush Agarwal, Divyani Garg, Mamta Bhushan Singh, Rohit Bhatia, Padma Srivastava, Achal Kumar Srivastava, Roopa Rajan\",\"doi\":\"10.1212/WNL.0000000000210046\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements. In this era of genomic testing, our case highlights the role of clinical phenotyping and the utility of whole-exome sequencing in ataxias.</p>\",\"PeriodicalId\":19256,\"journal\":{\"name\":\"Neurology\",\"volume\":\"103 11\",\"pages\":\"e210046\"},\"PeriodicalIF\":7.7000,\"publicationDate\":\"2024-12-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1212/WNL.0000000000210046\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1212/WNL.0000000000210046","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/12 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.
A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements. In this era of genomic testing, our case highlights the role of clinical phenotyping and the utility of whole-exome sequencing in ataxias.
期刊介绍：
Neurology, the official journal of the American Academy of Neurology, aspires to be the premier peer-reviewed journal for clinical neurology research. Its mission is to publish exceptional peer-reviewed original research articles, editorials, and reviews to improve patient care, education, clinical research, and professionalism in neurology.
As the leading clinical neurology journal worldwide, Neurology targets physicians specializing in nervous system diseases and conditions. It aims to advance the field by presenting new basic and clinical research that influences neurological practice. The journal is a leading source of cutting-edge, peer-reviewed information for the neurology community worldwide. Editorial content includes Research, Clinical/Scientific Notes, Views, Historical Neurology, NeuroImages, Humanities, Letters, and position papers from the American Academy of Neurology. The online version is considered the definitive version, encompassing all available content.
Neurology is indexed in prestigious databases such as MEDLINE/PubMed, Embase, Scopus, Biological Abstracts®, PsycINFO®, Current Contents®, Web of Science®, CrossRef, and Google Scholar.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
