孤独症的病因分子机制与遗传生物学研究进展

被引：15

作者：

康颖 ^{[1
,2
]}

静进 ^{[1
,2
]}

机构：

[1] 广东药学院临床医学院儿科

[2] 中山大学公共卫生学院妇幼系

来源：

中华行为医学与脑科学杂志 | 2010年 / 10期

关键词：

D O I：

暂无

中图分类号：

R749.94 [儿童精神病];

学科分类号：

100205 ;

摘要：

<正>儿童孤独症(autism)也称自闭症,是起病于婴幼儿时期的一种严重的广泛性发育障碍。特征为社会交往障碍、语言交流障碍和兴趣范围狭窄、重复或刻板动作。新近研究显示,孤独症在内涵与外延上已远远超出了传统的孤独症模型。分类包括阿斯伯格综合征(Asperger syndrome,AS)、雷特综合征(Rett's syndrome)、非特异性的广泛发育障碍(PDD-NOS)。此外还有些类似表现病症,如脆性X染色体综合征、结节性硬化、苯丙酮尿症等。研究体系倾向将这些统称之为孤独症谱系障

引用

共 19 条

[11]

Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk[J] . Allison E. Ashley-Koch,James Jaworski,De Qiong Ma,Hao Mei,Marylyn D. Ritchie,David A. Skaar,G. Robert Delong,Gordon Worley,Ruth K. Abramson,Harry H. Wright,Michael L. Cuccaro,John R. Gilbert,Eden R. Martin,Margaret A. Pericak-Vance.Psychiatric Genetics . 2007 (4)

[12] Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband [J].

Martin, Isabelle ;

Gauthier, Julie ;

D'Amelio, Marcello ;

Vedrine, Sylviane ;

Vourc'h, Patrick ;

Rouleau, Guy A. ;

Persico, Antonio M. ;

Andres, Christian R. .

NEUROSCIENCE RESEARCH, 2007, 59 (04) :426-430

[13]

A functional genetic link between distinctdevelopmental language disorders. Vernes,S.C,D.F Newbury,B.S.Abrahams. The New England Journal of Medicine . 2008

[14]

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly[J] . Gail E.Herman,EricButter,BenedictaEnrile,MatthewPastore,Thomas W.Prior,AnnemarieSommer.Am. J. Med. Genet. . 2007 (6)

[15]

Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation[J] . LoredanaBoccone,ValentinaDessì,AntoniettaZappu,SilviaPiga,Maria BonariaPiludu,MarcoRais,CarloMassidda,StefanoDe Virgiliis,AntonioCao,GeorgiosLoudianos.Am. J. Med. Genet. . 2006 (18)

[16] High frequency of neurexin 1β signal peptide structural variants in patients with autism [J].

Feng, Jinong ;

Schroer, Richard ;

Yan, Jin ;

Song, Wenjia ;

Yang, Chunmei ;

Bockholt, Anke ;

Cook, Edwin H., Jr. ;

Skinner, Cindy ;

Schwartz, Charles E. ;

Sommer, Steve S. .

NEUROSCIENCE LETTERS, 2006, 409 (01) :10-13

[17]

Replication of Autism Linkage: Fine-Mapping Peak at 17q21[J] . Rita M. Cantor,Naoko Kono,Jackie A. Duvall,Ana Alvarez-Retuerto,Jennifer L. Stone,Maricela Alarcón,Stanley F. Nelson,Daniel H. Geschwind.The American Journal of Human Genetics . 2005 (6)

[18] Autism in tuberous sclerosis [J].

Curatolo, P ;

Porfirio, MC ;

Manzi, B ;

Seri, S .

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2004, 8 (06) :327-332

[19]

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family[J] . Frédéric Laumonnier,Frédérique Bonnet-Brilhault,Marie Gomot,Romuald Blanc,Albert David,Marie-Pierre Moizard,Martine Raynaud,Nathalie Ronce,Eric Lemonnier,Patrick Calvas,Béatrice Laudier,Jamel Chelly,Jean-Pierre Fryns,Hans-Hilger Ropers,Ben C.J. Hamel,Christian Andres,Catherine Barthélémy,Claude Moraine,Sylvain Briault.The American Journal of Human Genetics . 2004 (3)

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