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Moving Beyond Syndromic Classifications in Neurodegenerative Disease: The Example of PLA2G6.超越神经退行性疾病的综合征分类：以PLA2G6为例。
Mov Disord Clin Pract. 2016 Dec 10;4(1):8-11. doi: 10.1002/mdc3.12441. eCollection 2017 Jan-Feb.
2
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
Brain. 2017 Dec 1;140(12):e73. doi: 10.1093/brain/awx280.
3
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.从豌豆到疾病：修饰基因、网络弹性与健康遗传学
Am J Hum Genet. 2017 Aug 3;101(2):177-191. doi: 10.1016/j.ajhg.2017.06.004.
4
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.POLR3A基因的亚效突变是散发性和隐性痉挛性共济失调的常见病因。
Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.
5
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.PLA2G6 突变与神经轴索性营养不良到遗传性痉挛性截瘫的连续临床谱相关。
Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.
6
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).ATP13A2/PARK9基因的功能丧失突变会导致复杂型遗传性痉挛性截瘫（SPG78）。
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
7
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.复杂遗传性痉挛性截瘫的遗传学和表型特征
Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23.
8
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.针对小脑共济失调和痉挛性截瘫的临床外显子组测序揭示了新的基因-疾病关联和意想不到的罕见疾病。
Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11.
9
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.遗传性运动障碍的命名：国际帕金森和运动障碍协会特别工作组的建议
Mov Disord. 2016 Apr;31(4):436-57. doi: 10.1002/mds.26527.
10
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.PNPLA6基因纯合突变所致的单纯性小脑共济失调
Cerebellum. 2017 Feb;16(1):262-267. doi: 10.1007/s12311-016-0769-x.

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

作者信息

Schüle Rebecca

机构信息

Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, 72076 Tübingen, Germany.

German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

出版信息

Brain. 2017 Dec 1;140(12):e74. doi: 10.1093/brain/awx282.

DOI:10.1093/brain/awx282
PMID:29112700
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5841037/
Abstract
摘要