Genes related to masqueraders of dystonic cerebral palsy

doi:10.11852/zgetbjzz2017-25-05-14

Abstract

Abstract: Cerebral palsy (CP) is heterogeneous with different clinical types,comorbidities,brain imaging patterns,causes,and now also heterogeneous underlying genetic variants.Epidemiological studies have shown that the origins of most CP are prior to labor.Clinical risk factors could act as triggers for CP where there is genetic susceptibility,such as preterm delivery,intrauterine infection,and so on.However,some movement disorders were misdiagnosed as CP in practice due to the coincident characteristics of "dystonia",representing spastic,ataxic or dyskinetic phenotype.Recently with the rapid development of molecular genetics (chromosome microarrays and second generation sequencing technology),an unprecedented number of new dystonia genes have recently been described.Here,genes of CP masqueraders were labelled as "symptamatic genes of CP" correspond to susceptibility genes,reviewed the progress of research and provided a reference for the survey,especially the genetic etiology of subsequent dystonia.

Key words: cerebral palsy, genetic factors, symptamatic genes

摘要： 脑性脑瘫(CP)是造成儿童肢体残疾的主要疾病,其临床类型、合并症、神经影像学表现、病因及遗传变异都具有异质性。流行病学研究表明,大多数CP起源于先天而非后天,早产、宫内感染等高危因素对于具有遗传易感性的人可作为诱发因素。但是,在临床实践中,一些具有痉挛、共济失调或不随意运动表型等表现的运动障碍性疾病容易被误诊为CP,最重要的原因就是它们表现出“肌张力障碍”的共性特征。近年来,随着分子遗传学的快速发展(如染色体微阵列和第二代测序技术),数量空前的肌张力障碍新的基因被发现。在这里,为了与CP易感基因区别,将易“伪装”成CP的肌张力障碍疾病基因称为“CP症状基因”,并对其研究进展进行综述,为后续的CP遗传病因学(尤其是肌张力障碍的遗传学原因)调查提供参考依据。

关键词: 脑性瘫痪, 遗传因素, 症状基因

CLC Number:

R179

FENG Huan-huan, PANG Wei. Genes related to masqueraders of dystonic cerebral palsy[J]. journal1, 2017, 25(5): 481-485.

冯欢欢, 庞伟. 脑性瘫痪肌张力障碍的症状基因[J]. 中国儿童保健杂志, 2017, 25(5): 481-485.

0
/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://manu41.magtech.com.cn/Jwk_zgetbjzz/EN/10.11852/zgetbjzz2017-25-05-14

https://manu41.magtech.com.cn/Jwk_zgetbjzz/EN/Y2017/V25/I5/481

References

[1] Klein C.Genetics in dystonia[J].Parkinsonism Relat Disord,2014,20(1):137-142.
[2] Asmus F,Gasser T.Dystonia-plus syndromes[J].Eur J Neurol,2010,17(1):37-45.
[3] Lohmann K,Klein C.Genetics of dystonia:what's known? What's new? What's next?[J] Mov Disord,2013,28(7):899-905.
[4] 李晓捷,唐久来,马丙祥,等.脑性瘫痪的定义、诊断标准及临床分型[J].中华实用儿科临床杂志,2014,29(19):1520.
[5] Cheng FB,Wan XH,Feng JC,et al.Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China[J].Eur J Neurol,2011,18(3):497-503.
[6] 王琳,万新华,万伏波,等.DYT6型肌张力障碍患者的临床表现和影像学特点[J].中华神经科杂志,2013,46(3):148-152.
[7] Kumar KR,Lohmann K,Masuho I,et al.Mutations in GNAL:a novel cause of craniocervical dystonia[J].JAMA Neurol,2014,71(4):490-494.
[8] Dobrii V,Kresojevi N,Westenberger A,et al.De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient[J].Mov Disord,2014,29(9):1190-1193.
[9] Sun ZF,Zhang YH,Guo JF,et al.Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing[J].PLoS One,2014,9(9):e106388.
[10] Lewthwaite AJ,Lambert TD,Rolfe EB,et al.Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease[J].Parkinsonism Relat Disord,2015,21(4):394-397.
[11] Mencacci NE,Isaias IU,Reich MM,et al.Parkinson's disease in GTP cyclohydrolase 1 mutation carriers[J].Brain,2014,137(9):2480-2492.
[12] Nardocci N.Myoclonus-dystonia syndrome[J].Handb Clin Neurol,2011,100(11):563-575.
[13] Korner G,Noain D,Ying M,et al.Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency[J].Brain,2015,138(10):2948-2963.
[14] Rose SJ,Yu XY,Heinzer AK,et al.A new knock-in mouse model of I-DOPA-responsive dystonia[J].Brain,2015,138(10):2987-3002.
[15] Al-Muslamani AM,Ali F,Mahmood F.A new tyrosine hydroxylase genotype with orofacial dyskinaesia[J].Sultan Qaboos Univ Med J,2014,14(3):397-400.
[16] Arrabal L,Teresa L,Sánchez-Alcudia R,et al.Genotype-phenotype correlations in sepiapterin reductase deficiency.A splicing defect accounts for a new phenotypic variant[J].Neurogenetics,2011,12(3):183-191.
[17] Lohmann E,Körolu Ç,Hanagasi HA,et al.A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood[J].Parkinsonism Relat Disord,2012,18(2):191-193.
[18] Groen JL,Ritz K,Jalalzadeh H,et al.RELN rare variants in myoclonus-dystonia[J].Mov Disord,2015,30(3):415-419.
[19] Peall KJ,Kurian MA,Wardle M,et al.SGCE and myoclonus dystonia:motor characteristics,diagnostic criteria and clinical predictors of genotype[J].J Neurol,2014,261(12):2296-2304.
[20] Wada T,Takano K,Tsurusaki Y,et al.Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE[J].Pediatr Int,2015,57(2):324-326.
[21] Drivenes B,Born AP,Ek J,et al.A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome[J].Eur J Paediatr Neurol,2015,19(6):719-721.
[22] Peall KJ,Smith DJ,Kurian MA,et al.SGCE mutations cause psychiatric disorders:clinical and genetic characterization[J].Brain,2013,136(1):294-303.
[23] Termsarasab P,Yang AC,Frucht SJ.Intermediate phenotypes of ATP1A3 mutations:phenotype-genotype correlations[J].Tremor Other Hyperkinet Mov(NY),2015,16(5):336.
[24] Weber A,Kreth J,Müller U.Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family[J].BMC Med Genet,2016,17(1):16-19.
[25] Maini I,Iodice A,Spagnoli C,et al.Expanding phenotype of PRRT2 gene mutations:A new case with epilepsy and benign myoclonus of early infancy[J].Eur J Paediatr Neurol,2016,20(3):454-456.
[26] Yeh TH,Lin JJ,Lai SC,et al.Familial paroxysmal nonkinesigenic dyskinesia:clinical and genetic analysis of a Taiwanese family[J].J Neurol Sci,2012,323(1/2):80-84.
[27] Liang S,Yu X,Zhang S,et al.A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland[J].Brain Res,2015,1595:120-126.
[28] Tacik P,Loens S,Schrader C,et al.Severe familial paroxysmal exercise-induced dyskinesia[J].J Neurol,2014,261(10):2009-2015.
[29] Gardiner AR,Jaffer F,Dale RC,et al.The clinical and genetic heterogeneity of paroxysmal dyskinesias[J].Brain,2015,138(12):3567-3580.
[30] Wang HX,Li HF,Liu GL,et al.Mutation analysis of MR-1,SLC2A1,and CLCN1 in 28 PRRT2-negative paroxysmal kinesigenic dyskinesia patients[J].Chin Med J (Engl),2016,129(9):1017-1021.