PLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

PLA2G6是一组常染色体隐性遗传神经退行性疾病的致病基因，称为PLA2G6相关神经退行性疾病 (PLAN)。我们提出了一个早发性帕金森症、共济失调、认知能力下降、小脑萎缩和脑铁积累的病例。PLA2G6编码区的测序仅鉴定出杂合无义变体，但 mRNA 分析显示由于新的深内含子变体 (c.2035-274G > A) 导致内含子假外显子激活，因此存在异常转录亚型。这些结果扩大了 PLAN 的基因型谱，表明在未确诊患者的深层内含子区域检测可能的致病变异至关重要。