Paroxysmal motor induced dyskinesia caused by PRRT2 gene c.776del mutation
10.3969/j.issn.1002-0152.2024.04.008
- VernacularTitle:PRRT2基因c.776del突变致发作性运动诱发性运动障碍1例
- Author:
Sen HUANG
1
;
Zhan-Hua ZHONG
;
Weineng CHEN
;
Ruojie HE
;
Ling LIAN
;
Xiaoli YAO
Author Information
1. 中山大学附属第一医院神经科,广东省重大神经疾病诊治研究重点实验室,国家临床重点专科和国家重点学科(广州 510080)
- Keywords:
Paroxysmal kinesigenic dyskinesia;
Movement disorder;
Frame-shift mutation;
Clinical features;
PRRT2
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(4):239-241
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a typical case of paroxysmal kinesigenic dyskinesia(PKD).The patient was a 26-year-old female with a medical history of 10 years.The patient manifested as paroxysmal choreoathetosis of the limb and head triggered by sudden movement in a quiet state,without sensory aura.The symptoms resolved spontaneously after tens of seconds.She was conscious during and between attacks,had a clear family history and a normal neurological examination.No abnormalities were found in brain magnetic resonance image and electroencephalogram.Genetic test showed a frame-shift mutation of c.776del in PRRT2 gene of the proband and her father with similar phenotype.The patient was diagnosed with PKD according to the diagnostic criteria for PKD.The symptoms were significantly relieved after one month of oxcarbazepine treatment with good prognosis.PKD is a rare movement disorder.The patient has typical symptoms,and the mutation site has not been reported in the Human Gene Mutation Database.Therefore,this article enriched the pathogenic gene mutation spectrum of PKD,provided a basis for genetic counseling of PKD and increased the awareness of this rare disease among physicians.
