Generalized dystonia with 3-methylglutaconic aciduria caused by Serac1 gene mutation： A report of two cases

VernacularTitle:Serac1基因突变导致全身型肌张力障碍伴3-甲基戊二酸尿症2例报告
Author: Yang LI ¹ ; Xinhua WAN ¹
Author Information

1. Neurology Department of Chinese Academy of Medical Sciences & Peking Union Medical College，Beijing 100730, China
Publication Type:Journal Article
Keywords: Generalized dystonia; Serac1; 3-Methylglutaconic aciduria; Whole exome sequencing
From: Journal of Apoplexy and Nervous Diseases 2025;42(4):297-299
CountryChina
Language:Chinese
Abstract: This study reports a pair of sisters with generalized dystonia and 3-methylglutaconic aciduria，including clinical phenotype analysis and genetic testing. Through medical history collection，imaging and laboratory examinations，and genetic analysis，it was found that the two patients had a homozygous mutation，c.1687T>C，in the Serac1 gene on chromosome 6，which was located at exon 16. The Serac1 gene mutation with adolescent-onset generalized dystonia as the main clinical phenotype has not been reported in the literature before. This study finds for the first time that Serac1 mutation at this site can cause generalized dystonia，which can provide a reference for the diagnosis and treatment of similar cases in the future.
Full text:2025071613213293747Serac1基因突变导致全身型肌张力障碍伴3-甲基戊二酸尿症2例报告.pdf