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Expanding the phenotype toward spastic paraparesis: A mutation in the M2 domain.

作者信息

Waalkens Anne J E, Vansenne Fleur, van der Hout Annemarie H, Zutt Rodi, Mourmans Jeroen, Tolosa Eduardo, de Koning Tom J, Tijssen Marina A J

机构信息

Department of Neurology (A.J.E.W., R.Z., M.A.J.T.), and Department of Genetics (F.V., A.H.v.d.H., T.J.d.K.), University Medical Center Groningen, University of Groningen; Department of Pediatrics (J.M.), Deventer Hospital, The Netherlands; and Parkinson's Disease and Movement Disorders Unit (E.T.), Hospital Clinic of Barcelona, Institut Clínic de Neurociències, Barcelona, Spain.

出版信息

Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb.

DOI:10.1212/NXG.0000000000000214
PMID:29473048
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5820596/
Abstract
摘要

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本文引用的文献

1
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.与腺苷酸环化酶5相关的运动障碍：一组儿科患者的发病率、病程及表型变异性
Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
2
Phenotypic insights into ADCY5-associated disease.对ADCY5相关疾病的表型见解。
Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
3
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
4
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27.
5
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.家族性运动障碍伴面肌肌纤维抽搐中的功能获得性 ADCY5 突变。
Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.
6
Motor dysfunction in type 5 adenylyl cyclase-null mice.
J Biol Chem. 2003 May 9;278(19):16936-40. doi: 10.1074/jbc.C300075200. Epub 2003 Mar 28.