Paroxysmal kinesigenic dyskinesia
| Autor: | Mei Zhang, Li Cao, Xiao-Jun Huang, Xiao Mao, Sheng-Di Chen, Jin Li, Yu Zhang, Beisha Tang, Li Wu, Jing-yi Wang, Xiao-Li Liu, Junling Wang, Jun-Yi Shen, Guang-Hui Bi, Tian Wang, Xiang-Qian Che |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Proband medicine.medical_specialty Pathology Time Factors Adolescent Nerve Tissue Proteins Severity of Illness Index Gastroenterology Young Adult Chorea Internal medicine Humans Medicine Age of Onset Family history Child Genetic Association Studies Dystonia business.industry Homozygote Infant Membrane Proteins Uniparental Disomy Paroxysmal dyskinesia musculoskeletal system medicine.disease Uniparental disomy Child Preschool Mutation cardiovascular system Population study Female Neurology (clinical) medicine.symptom business PRRT2 |
| Zdroj: | Neurology. 85:1546-1553 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000002079 |
| Popis: | Objective: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype–phenotype correlation of PKD. Methods: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations. Results: Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76.9%) and 14 sporadic cases (21.5%), accounting for 37.4% (34/91) of the study population. Five mutations (c.649dupC, c.649delC, c.487C>T, c.573dupT, c.796C>T) were already reported, while 3 mutations (c.787C>T, c.797G>A, c.931C>T) were undocumented. A patient harboring a homozygous c.931C>T mutation was shown to have inherited the mutation via uniparental disomy. Compared with non- PRRT2 mutation carriers, the PRRT2 mutation carriers were younger at onset, experienced longer attacks, and tended to present with complicated PKD, combined phenotypes of dystonia and chorea, and a positive family history. A good response was shown in 98.4% of the patients prescribed with carbamazepine. Conclusions: PRRT2 mutations are common in patients with PKD and are significantly associated with an earlier age at onset, longer duration of attacks, a complicated form of PKD, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD. A patient with uniparental disomy resulting in a homozygous c.931C>T mutation is identified in the present study. Carbamazepine is the first-choice drug for patients with PKD, but an individualized treatment regimen should be developed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|