A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy

Published:2024-01-01 Issue:1 Volume:81 Page:83
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Hua Lei¹²,Zhao Yang¹,Han Yong-Shen²³

Affiliation:

1. Nanjing City Hospital of Traditional Chinese Medicine, Nanjing University of Traditional Chinese Medicine, Nanjing, China

2. Institute of Neurology, Anhui University of Traditional Chinese Medicine, Hefei, China

3. Wannan Medical College, Wuhu, China

Abstract

A 31-year-old woman was seen with contractures in her fingers and toes, carpal inversion, dysarthria, dysphagia, hypertonia, decreased tendon reflexes, absence of Babinski sign, and no psychiatric problems and significant global atrophy. What is your diagnosis?

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

Link

https://jamanetwork.com/journals/jamaneurology/articlepdf/2812355/jamaneurology_hua_2023_cg_230003_1703025857.89892.pdf

Reference9 articles.

1. Cerebral palsy: an overview.;Vitrikas;Am Fam Physician,2020

2. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.;Méreaux;Brain,2022

3. Early-onset and severe complex hereditary spastic paraplegia caused by de novo variants in SPAST.;Mo;Mov Disord,2022

4. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.;Camargos;Lancet Neurol,2008

5. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.;Willemsen;Brain,2010

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP