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SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa.

作者信息

Araujo Filipe Miranda Milagres, Junior Wilson Marques, Tomaselli Pedro José, Pimentel Ângela V, Macruz Brito Manuelina C, Tumas Vitor

机构信息

Movement Disorders and Behavioral Neurology Section University of São Paulo Ribeirão Preto Brazil.

Neurogenetics Section, Department of Neurosciences and Behavioral Sciences Ribeirão Preto Medical School Hospital, University of São Paulo (USP) Ribeirão Preto Brazil.

出版信息

Mov Disord Clin Pract. 2020 Aug 26;7(7):842-844. doi: 10.1002/mdc3.13027. eCollection 2020 Oct.

DOI:10.1002/mdc3.13027
PMID:33033739
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7533969/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/950f/7533969/176de3061094/MDC3-7-842-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/950f/7533969/176de3061094/MDC3-7-842-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/950f/7533969/176de3061094/MDC3-7-842-g001.jpg

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本文引用的文献

1
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.遗传性痉挛性截瘫的临床和分子特征：下一代测序 panel 方法。
J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10.
2
When shaking during standing points to hereditary spastic paraplegias.
Parkinsonism Relat Disord. 2018 Jan;46:92-94. doi: 10.1016/j.parkreldis.2017.10.017. Epub 2017 Oct 26.
3
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.复杂痉挛性截瘫 SPG11、SPG15、SPG35 和 SPG48 中的重叠表型。
J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815.
Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.
4
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub 2013 Dec 24.
5
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.遗传性痉挛性截瘫：临床病理特征和新兴分子机制。
Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30.
6
Atypical juvenile parkinsonism in a consanguineous SPG15 family.
Mov Disord. 2011 Feb 15;26(3):564-6. doi: 10.1002/mds.23472. Epub 2011 Jan 6.
7
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.SPG11 中的新突变导致早发性左旋多巴反应性帕金森病相关的遗传性痉挛性截瘫。
Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.
8
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.SPG11型痉挛性截瘫。青少年帕金森病的一个新病因。
J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9.
9
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.编码痉挛素的SPG15基因被鉴定为复杂常染色体隐性遗传性痉挛性截瘫（包括凯尔林综合征）的常见病因。
Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004.
10
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.伴有胼胝体变薄的复杂遗传性痉挛性截瘫（HSP-TCC）及儿童期起病。
Neuropediatrics. 2005 Aug;36(4):274-8. doi: 10.1055/s-2005-872809.