Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

被引：24

作者：

Westenberger, Ana ^{[1
]}

Max, Christoph ^{[1
]}

Brueggemann, Norbert ^{[1
,2
]}

Domingo, Aloysius ^{[1
,3
]}

Gruetz, Karen ^{[1
]}

Pawlack, Heike ^{[1
]}

Weissbach, Anne ^{[1
]}

Kuehn, Andrea A. ^{[4
]}

Spiegler, Juliane ^{[5
]}

Lang, Anthony E. ^{[6
]}

Sperner, Juergen

Fung, Victor S. C. ^{[7
,8
]}

Schallner, Jens ^{[9
]}

Gillessen-Kaesbach, Gabriele ^{[10
]}

Muenchau, Alexander ^{[1
]}

Klein, Christine ^{[1
]}

机构：

[1] Univ Lubeck, Inst Neurogenet, Ratzeburger Allee 160, D-23538 Lubeck, Germany

[2] Univ Lubeck, Dept Neurol, Lubeck, Germany

[3] Univ Lubeck, Grad Sch Comp Med & Life Sci, Lubeck, Germany

[4] Humboldt Univ, Charite, Dept Neurol, Campus Virchow Klinikum, Berlin, Germany

[5] Univ Med Ctr Schleswig Holstein, Dept Pediat, Campus Lubeck, Kiel, Germany

[6] Univ Toronto, Edmond J Safra Program Parkinsons Dis, Toronto Western Hosp, Dept Med,Div Neurol, Toronto, ON, Canada

[7] Westmead Hosp, Movement Disorders Unit, Dept Neurol, Sydney, NSW, Australia

[8] Sydney Med Sch, Sydney, NSW, Australia

[9] Tech Univ Dresden, Dept Neuropediat, Med Fac Carl Gustav Carus, Dresden, Germany

[10] Univ Lubeck, Inst Human Genet, Lubeck, Germany

来源：

JOURNAL OF PEDIATRICS | 2017年 / 181卷

关键词：

FAMILIAL DYSKINESIA; FACIAL MYOKYMIA; ADCY5; MUTATIONS; VARIANTS; DYSTONIA; SPECTRUM; CHOREA;

D O I：

10.1016/j.jpeds.2016.10.079

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhoodonset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

引用

页码：306 / +

页数：4

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