Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3

Xin-Yao Li; Yue-Hui Hong; Lin Wang; Xin-Hua Wan

doi:10.1016/j.parkreldis.2020.05.030

Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3

Parkinsonism Relat Disord. 2020 Sep:78:189-191. doi: 10.1016/j.parkreldis.2020.05.030. Epub 2020 Jun 29.

Authors

Xin-Yao Li¹, Yue-Hui Hong¹, Lin Wang², Xin-Hua Wan³

Affiliations

¹ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
² Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China. Electronic address: wanglin@pumch.cn.
³ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China. Electronic address: wanxh@pumch.cn.

PMID: 32684337
DOI: 10.1016/j.parkreldis.2020.05.030

Abstract

ATP1A3-related dystonia is a disorder with high heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 gene. Here, 2 atypical cases carring 2 de-novo ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemi-dystonia are described.

Keywords: ATP1A3; Dystonia; Phenotypes.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cerebellar Ataxia / genetics*
Cerebellar Ataxia / physiopathology*
Child
China
Dystonic Disorders / genetics*
Dystonic Disorders / physiopathology*
Exome Sequencing
Female
Foot Deformities, Congenital / genetics*
Foot Deformities, Congenital / physiopathology*
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / physiopathology*
Humans
Magnetic Resonance Imaging
Male
Optic Atrophy / genetics*
Optic Atrophy / physiopathology*
Pedigree
Reflex, Abnormal / genetics*
Sodium-Potassium-Exchanging ATPase / genetics*
Young Adult

Substances

ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase

Supplementary concepts

CAPOS syndrome
Dystonia 12