演題詳細
Poster
神経発達障害
Neurodevelopmental Disorders
| 開催日 | 2014/9/13 |
|---|---|
| 時間 | 14:00 - 15:00 |
| 会場 | Poster / Exhibition（Event Hall B） |
PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response
- P3-322
- Hong-Fu Li:1 Wan-Jin Chen:2 Wang Ni:1 Kai-Yan Wang:1 Gong-Lu Liu:1 Ning Wang:2 Zhi-Qi Xiong:3 Jian-Feng Xu:4 Zhi-Ying Wu:1
- 1:Huashan Hospital, Fudan University, Shanghai, China 2:Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China 3:Institute of Neuroscience, State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, Ch 4:State Key Laboratory of Genetic Engineering and Fudan-VARI Center for Genetic Epidemiology, School of Life Science, Fudan University, Shanghai, China
PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response
Methods: Eighty-one PKD patients, including 44 familial cases in 14 pedigrees and 37 sporadic cases, were enrolled. Detailed clinical phenotypes were evaluated. Carbamazepine was prescribed in a subset of PKD patients, and drug response was followed up via phone once each week in the first month, followed by an in-person interview every three months during the first year and every six months afterwards. Differences in characteristics between PKD patients with or without PRRT2 mutations were tested using a two-sample t-test or chi-square test.
Results: All 48 PRRT2 mutation carriers expressed the choreoathetosis phenotype, while 33 non-PRRT2 mutation carriers expressed either the dystonia phenotype (79%) or the choreoathetosis phenotype (21%; P=3.8x10-15). Compared to the non-PRRT2 mutation carriers, the PRRT2 mutation carriers were significantly younger at onset ( P=2.2x10-11) and had a longer duration of attack episodes (P=2.2x10-4). All PRRT2 mutation carriers responded completely to low-dose of carbamazepine; however, 94% of the non-PRRT2 mutation carriers did not have a full response to carbamazepine, even after the dose was increased (P<0.0001).
Conclusions: PRRT2 mutations may be included in the Bruno criteria to facilitate the diagnosis of PKD, classify PKD patients more accurately and inform more effective clinical treatments. We also propose the PRRT2-linked PKD should be termed as PKD1 which is characterized by earlier onset age, longer duration of PKD attacks, bilateral choreoathetosis, and excellent response to low dose carbamazepine.