Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.

IF 7.7 1区医学 Q1 CLINICAL NEUROLOGY

Neurology Pub Date : 2024-12-10 Epub Date: 2024-11-12 DOI:10.1212/WNL.0000000000210046

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

引用次数: 0

Abstract

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.

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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。

一名 50 岁的男性患者因进行性小脑共济失调、多灶性肌张力障碍伴肌张力震颤和眼球运动异常（包括双侧眼睑下垂、眼球转动缓慢和眼球运动范围缩小）就诊，病史长达 10 年。患者没有认知障碍、帕金森病、自主神经功能障碍或肌无力的症状，家族史也无异常。本病例介绍了成人发病型小脑共济失调伴肌张力障碍和眼球运动异常的诊断方法。在这个基因组检测时代，我们的病例凸显了临床表型分析的作用以及全外显子组测序在共济失调中的实用性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurology 医学-临床神经学

CiteScore

12.20

自引率

4.00%

发文量

1973

审稿时长

2-3 weeks

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.