ADCY5-related dyskinesia: a case report

Shih Ying Chen; Chen Jui Ho; Yan Ting Lu; Chih Hsiang Lin; Meng Han Tsai

doi:10.1186/s42466-022-00204-w

ADCY5-related dyskinesia: a case report

Shih Ying Chen
, Chen Jui Ho
, Yan Ting Lu
, Chih Hsiang Lin
, Meng Han Tsai^*

^*此作品的通信作者

Chang Gung Memorial Hospital
Chang Gung University

研究成果: 期刊稿件 › 快報 › 同行評審

3 引文斯高帕斯（Scopus）

摘要

Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

原文	英語
文章編號	39
期刊	Neurological Research and Practice
卷	4
發行號	1
DOIs	https://doi.org/10.1186/s42466-022-00204-w
出版狀態	已出版 - 12 2022
對外發佈	是

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Publisher Copyright:
© 2022, The Author(s).

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10.1186/s42466-022-00204-w

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title = "ADCY5-related dyskinesia: a case report",

abstract = "Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.",

keywords = "ADCY5, Chorea, Dyskinesia, Dystonia, Whole exome sequencing",

author = "Chen, \{Shih Ying\} and Ho, \{Chen Jui\} and Lu, \{Yan Ting\} and Lin, \{Chih Hsiang\} and Tsai, \{Meng Han\}",

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doi = "10.1186/s42466-022-00204-w",

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T1 - ADCY5-related dyskinesia

T2 - a case report

AU - Chen, Shih Ying

AU - Ho, Chen Jui

AU - Lu, Yan Ting

AU - Lin, Chih Hsiang

AU - Tsai, Meng Han

PY - 2022/12

Y1 - 2022/12

N2 - Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

AB - Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

KW - ADCY5

KW - Chorea

KW - Dyskinesia

KW - Dystonia

KW - Whole exome sequencing

UR - https://www.scopus.com/pages/publications/85147469603

U2 - 10.1186/s42466-022-00204-w

DO - 10.1186/s42466-022-00204-w

M3 - 快报

AN - SCOPUS:85147469603

SN - 2524-3489

VL - 4

JO - Neurological Research and Practice

JF - Neurological Research and Practice

IS - 1

M1 - 39

ER -

ADCY5-related dyskinesia: a case report

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