Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7‐Related Hereditary Spastic Paraplegia

遗传性痉挛性截瘫 截瘫 痉挛 痉挛的 医学 物理医学与康复 共济失调 眼球震颤 介绍(产科) 听力学 脊髓 外科 脑瘫 精神科 表型 化学 基因 生物化学
作者
Jordan Hickman,Marrisa Lafreniere,Jeffrey L. Bennett,Emily Forbes,Jeanne Feuerstein
出处
期刊:Movement Disorders Clinical Practice [Wiley]
卷期号:11 (4): 441-443
标识
DOI:10.1002/mdc3.13991
摘要

Movement Disorders Clinical PracticeVolume 11, Issue 4 p. 441-443 LETTERS: GENOTYPE AND PHENOTYPE Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia Jordan L. Hickman MS, Corresponding Author Jordan L. Hickman MS [email protected] orcid.org/0000-0002-9048-2247 Medical Scientist Training Program, University of Colorado School of Medicine, Aurora, Colorado, USA Correspondence to: Jordan L. Hickman, Medical Scientist Training Program, University of Colorado School of Medicine, 303-521-6198, 12761 E 17th Avenue, MS B185, Aurora, CO 80045, USA; E-mail: [email protected]Search for more papers by this authorMarrisa Lafreniere CGC, MS, Marrisa Lafreniere CGC, MS Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorJeffrey L. Bennett MD, PhD, Jeffrey L. Bennett MD, PhD Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorEmily Forbes DO, MS, Emily Forbes DO, MS Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorJeanne Feuerstein MD, Jeanne Feuerstein MD orcid.org/0000-0002-7701-3120 Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA Department of Neurology, Rocky Mountain Regional VA Medical Center, Aurora, Colorado, USASearch for more papers by this author Jordan L. Hickman MS, Corresponding Author Jordan L. Hickman MS [email protected] orcid.org/0000-0002-9048-2247 Medical Scientist Training Program, University of Colorado School of Medicine, Aurora, Colorado, USA Correspondence to: Jordan L. Hickman, Medical Scientist Training Program, University of Colorado School of Medicine, 303-521-6198, 12761 E 17th Avenue, MS B185, Aurora, CO 80045, USA; E-mail: [email protected]Search for more papers by this authorMarrisa Lafreniere CGC, MS, Marrisa Lafreniere CGC, MS Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorJeffrey L. Bennett MD, PhD, Jeffrey L. Bennett MD, PhD Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorEmily Forbes DO, MS, Emily Forbes DO, MS Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USASearch for more papers by this authorJeanne Feuerstein MD, Jeanne Feuerstein MD orcid.org/0000-0002-7701-3120 Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA Department of Neurology, Rocky Mountain Regional VA Medical Center, Aurora, Colorado, USASearch for more papers by this author First published: 23 February 2024 https://doi.org/10.1002/mdc3.13991 Relevant disclosures and conflict of interest are listed at the end of this article. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Murala S, Nagarajan E, Bollu PC. Hereditary spastic paraplegia. Neurol Sc. 2021; 42(3): 883–894. 10.1007/s10072-020-04981-7 PubMedWeb of Science®Google Scholar 2Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology 2007; 69(4): 368–375. 10.1212/01.wnl.0000266667.91074.fe CASPubMedWeb of Science®Google Scholar 3Casari G, Marconi R. Spastic Paraplegia 7. In: MP Adam, DB Everman, GM Mirzaa, RA Pagon, SE Wallace, LJ Bean, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2023 Jan 6]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1107/. Google Scholar 4Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17(5): 405–424. 10.1038/gim.2015.30 PubMedWeb of Science®Google Scholar 5Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, et al. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology 2019; 92(23): e2679–e2690. 10.1212/WNL.0000000000007606 CASPubMedWeb of Science®Google Scholar 6Pfeffer G, Pyle A, Griffin H, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology 2015; 84(11): 1174–1176. 10.1212/WNL.0000000000001369 PubMedWeb of Science®Google Scholar 7Waespe W, Cohen B, Raphan T. Dynamic modification of the vestibulo-ocular reflex by the nodulus and uvula. Science 1985; 228(4696): 199–202. 10.1126/science.3871968 CASPubMedWeb of Science®Google Scholar 8Shemesh AA, Zee DS. Eye movement disorders and the cerebellum. J Clin Neurophysiol 2019; 36(6): 405–414. 10.1097/WNP.0000000000000579 PubMedWeb of Science®Google Scholar 9van Gassen KLI, van der Heijden CDCC, de Bot ST, et al. Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 2012; 135(Pt 10): 2994–3004. 10.1093/brain/aws224 PubMedWeb of Science®Google Scholar 10 Genome Aggregation Database (gnomAD). Variant 16-89,550,557-C-G; 2023. Retrieved from https://gnomad.broadinstitute.org/variant/16-89550557-C-Gdataset=gnomad_r4. Google Scholar Volume11, Issue4April 2024Pages 441-443 ReferencesRelatedInformation

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
lxcy0612完成签到,获得积分10
3秒前
舒适荟完成签到,获得积分10
4秒前
自然的听南完成签到 ,获得积分10
4秒前
bju完成签到,获得积分10
6秒前
7秒前
龙龖龘完成签到,获得积分10
8秒前
多大发布了新的文献求助10
9秒前
风汐5423完成签到,获得积分10
10秒前
闪闪的晓丝完成签到 ,获得积分10
12秒前
Sean完成签到 ,获得积分10
14秒前
英吉利25发布了新的文献求助10
16秒前
曾志伟完成签到,获得积分10
18秒前
21秒前
cosscant完成签到 ,获得积分10
21秒前
DL_zhai完成签到,获得积分10
22秒前
小金鱼166完成签到,获得积分10
23秒前
嘉子发布了新的文献求助10
25秒前
26秒前
wali完成签到 ,获得积分0
27秒前
英俊思真完成签到,获得积分10
28秒前
aikeyan完成签到,获得积分10
30秒前
30秒前
小金鱼完成签到,获得积分10
33秒前
彭于晏应助skywalker采纳,获得10
34秒前
温婉的采蓝完成签到 ,获得积分10
35秒前
科研通AI6.4应助嘉子采纳,获得10
35秒前
123完成签到,获得积分10
35秒前
35秒前
36秒前
阳阳完成签到 ,获得积分10
36秒前
小金鱼完成签到,获得积分10
37秒前
xiaojinyu131完成签到,获得积分10
42秒前
英吉利25发布了新的文献求助10
42秒前
44秒前
123发布了新的文献求助10
44秒前
49秒前
52秒前
冯冯完成签到 ,获得积分10
54秒前
55秒前
高分求助中
(应助此贴封号)【重要!!请各用户(尤其是新用户)详细阅读】【科研通的精品贴汇总】 10000
The anomeric effect 1000
Principles of town planning: translating concepts to applications 1000
1 Peter and Christ's Descent to the Dead in Its Early Christian Reception 700
Organizational Behavior 510
Management and the Arts 510
Matrix Methods in Data Mining and Pattern Recognition Second Edition 510
热门求助领域 (近24小时)
化学 材料科学 医学 生物 纳米技术 工程类 有机化学 化学工程 生物化学 计算机科学 内科学 物理 复合材料 催化作用 细胞生物学 无机化学 光电子学 物理化学 电极 基因
热门帖子
关注 科研通微信公众号,转发送积分 7732507
求助须知:如何正确求助?哪些是违规求助? 9283320
关于积分的说明 20156789
捐赠科研通 7310005
什么是DOI,文献DOI怎么找? 3304137
关于科研通互助平台的介绍 2456970
邀请新用户注册赠送积分活动 2313268