ATP13A2基因突变与Kufor-Rakeb综合征（Kufor-Rakeb syndrome，KRS）、遗传性痉挛性截瘫78型（spastic paraplegia， SPG78）、神经元脑苷脂沉积症12型、肌萎缩侧索硬化等多种神经变性疾病相关。本文报道1例罕见的ATP13A2基因纯合突变患者（Exon12 c.1062G>T：p.Lys354Asn）。该患者为35岁女性，以双上肢不自主抖动起病，这种抖动考虑为姿势及动作诱发肌阵挛，逐渐累及双下肢，伴有运动迟缓、下肢痉挛步态、认知功能障碍及精神行为异常。肌电分析示，患者站立位和半卧位可见双下肢阵发性肌电发放，发放频率不规则；体感诱发电位检查显示，P25波幅明显增高，提示皮层来源肌阵挛。予患者左乙拉西坦联合氯硝西泮改善肌阵挛，左旋多巴/苄丝肼联合普拉克索抗帕金森症状，患者的肌阵挛、肌强直、运动迟缓均较前明显改善，可独立行走。该患者突变位点在PubMed数据库、中华医学期刊全文数据库、万方数据库、知网数据库中均未见报道，氨基酸保守性分析显示该位点在人以及大鼠、小鼠、牛、黑猩猩、猪6种脊椎动物中高度保守，根据美国医学遗传学与基因组学学会遗传变异分类标准及指南，该变异为可能致病性变异，具有KRS、SPG78表型叠加特征。皮层来源的四肢粗大肌阵挛为该基因首次报道的表型，本次报道扩大了其临床表型谱。

Mutations in the ATP13A2 gene are associated with various neurodegenerative diseases, including Kufor-Rakeb syndrome (KRS), hereditary spastic paraplegia type 78 (SPG78), neuronal ceroid lipofuscinosis type 12 (CLN12), and amyotrophic lateral sclerosis (ALS). This study reports a case of a rare homozygous mutation in the ATP13A2 gene (Exon12 c.1062G>T: p.Lys354Asn). The patient, a 35-year-old female, initially presented with involuntary tremors in both upper limbs, which were considered posture- and action-induced myoclonus. The symptoms progressively involved both lower limbs, accompanied by bradykinesia, spastic gait in the lower limbs, cognitive impairment, and psychiatric behavioral abnormalities. Electromyography (EMG) revealed paroxysmal EMG discharges in both lower limbs when the patient was in the standing and semi-recumbent positions, with irregular discharge frequencies. Somatosensory evoked potential testing indicated a significant increase in P25 amplitude, suggesting a cortical origin of the myoclonus. The patient was treated with levetiracetam combined with clonazepam to alleviate the myoclonus and levodopa/benserazide combined with pramipexole for parkinsonian symptoms. Significant improvements were observed in myoclonus, muscle rigidity, and bradykinesia, and the patient regained independent ambulation. This mutation site in this patient has not been previously reported in the PubMed database, the Chinese Medical Journal (CMJ) Full-Text Database, Wanfang Database, or the China National Knowledge Infrastructure (CNKI). Amino acid conservation analysis indicated that this site was highly conserved among six vertebrate species, including humans, rats, mice, cattle, chimpanzees, and pigs. According to the genetic mutation classification standards and guidelines of the American College of Medical Genetics and Genomics (ACMGG), this mutation is considered likely pathogenic, exhibiting overlapping phenotypic features of KRS and SPG78. The phenotype of coarse limb myoclonus of cortical origin represents the first reported case associated with this gene, thereby expanding its clinical phenotypic spectrum.