ATP1A3 mutations What is the phenotype?

被引：10

作者：

Brashear, Allison ^{[1
]}

Ozelius, Laurie J. ^{[2
]}

Sweadner, Kathleen J. ^{[3
]}

机构：

[1] Wake Forest Baptist Hlth, Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27103 USA

[2] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA

[3] Massachusetts Gen Hosp, Boston, MA 02114 USA

来源：

NEUROLOGY | 2014年 / 82卷 / 06期

关键词：

ONSET DYSTONIA-PARKINSONISM; DE-NOVO MUTATIONS; ALTERNATING HEMIPLEGIA; CHILDHOOD; GENE;

D O I：

10.1212/WNL.0000000000000113

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Rapid-onset dystonia-parkinsonism (RDP) occurs in children over 18 months of age, teens, and adults, and alternating hemiplegia of childhood (AHC) occurs in children less than 18 months. They appear to be different diseases, but both are caused by mutations in ATP1A3.(1-4)ATP1A3 encodes the subunit of the Na+/K+-ATPase that is partially responsible for maintaining the electrical gradient in neurons. Motor symptoms, particularly dystonia, are obvious in both RDP and AHC, but RDP is predominantly fixed and AHC is known for its episodic and fluctuating course. There is now a broader phenotypic spectrum of RDP than originally described in 1993,(5,6) including psychosis,(7) new phenotypes in children,(8) and late onset.(9) The nonmotor phenotypes of both RDP (cognitive and psychiatric) and AHC (developmental delay, cognitive, and behavioral)(10,11) suggest that ATP1A3 mutations may play a role in other neurologic and psychiatric disorders. Mutations causing RDP or AHC cause symptoms such as dystonia, parkinsonism, epilepsy (including status epilepticus), hemiplegic episodes, abnormal ocular movements, developmental delay, psychosis, depression, anxiety, and gait disorders in ages ranging from newborns to age 87 years. It is likely that there will be a broad continuum of patients found, and even a role for the gene in polygenic disorders.

引用

页码：468 / 469

页数：2

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