A pedigree study of paroxysmal exercise-induced dyskinesia with Parkinson-like symptoms associated with the expression of the PRRT2 gene in the elderly / 中华老年医学杂志

ABSTRACT

Objective:To study the clinical and genetic characteristics of familial paroxysmal exercise-induced dyskinesia with Parkinson-like manifestations in the elderly.Methods:Clinical data of 9 family members were analyzed, including 2 patients(both received treatment)consenting to appropriate therapy and prediction protocols.DNA was extracted from peripheral blood samples, and then second-generation sequencing mutation screening.Results:The tremor of two probands in the family was completely brought under control by oxcarbazepine treatment.In 5 family members, a heterozygous mutation of base G>C in exon 2 c. G366C: P.QCon122H at position 29824741 of the PRRT2 gene was found, resulting in the mutation of the amino acid at 122 from glutamine to histidine, which was predicted by SIFT and M-CAP to be harmful.Sanger sequencing of pedigree samples showed that the sisters, brothers and nephews of the proband were heterozygous and their nieces were of the wild type.Conclusions:Q122 of PRRT2 protein can cause the Parkinson-like limb tremor phenotype, and antiepileptic drugs are also effective for paroxysmal exercise-induced dyskinesia in the elderly.