To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progressive dystonia.

Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing.

A homozygous likely pathogenic variant in the SERAC1 gene (c.[129-2A > C], p.[(?)];[(?)]) was discovered.

We describe a novel homozygous variant in the serine active site-containing protein 1 gene (SERAC1) in 2 brothers with a progressive extrapyramidal movement disorder of early onset parkinsonism and dystonia. Previous variants have been associated with a severe 3-methylglutaconic aciduria with dystonia, deafness, hepatopathy, encephalopathy and Leigh-like syndrome, or juvenile onset complicated spastic paraparesis. Our cases expand the phenotype of SERAC1 variants, with an adult-onset presentation of dystonia-parkinsonism.

报告SERAC1基因中一种新的可能致病性变异，该变异与成年早期帕金森症和进行性肌张力障碍相关。

对 2 名患有遗传性未解决的进行性神经系统疾病的受影响的成年兄弟进行了临床、生化和影像学评估，然后进行了全基因组测序。

在SERAC1基因 (c.[129-2A > C], p.[(?)];[(?)]) 中发现了一个纯合的可能致病性变异。

我们描述了2 名患有早发性帕金森病和肌张力障碍的进行性锥体外系运动障碍的兄弟中含有丝氨酸活性位点的蛋白质 1 基因 ( SERAC1 ) 的一种新型纯合变体。先前的变异与严重的 3-甲基戊烯二酸尿症伴有肌张力障碍、耳聋、肝病、脑病和 Leigh 样综合征，或幼年发作的并发性痉挛性下肢轻瘫有关。我们的病例扩展了SERAC1变异体的表型，具有成人发作的肌张力障碍-帕金森病表现。