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

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