摘要回顾性分析2023年7月北京大学第一医院儿童医学中心神经内科收治的1例 VPS41基因变异致常染色体隐性遗传小脑性共济失调患儿的临床特征及基因变异特点，并进行文献复习。患儿，男，10岁，自幼运动发育迟缓，1岁独坐，2岁独走，走路不稳，容易摔倒，运动能力可缓慢进步；学习成绩差。查体：眼球跟踪欠佳，眼球震颤，存在共济失调体征。头颅磁共振成像示小脑轻度萎缩。家系全外显子测序发现患儿携带 VPS41基因c.1247G>A，p.R416H和c.1175dup，p.H392Qfs*2复合杂合变异，分别遗传自父母，诊断为 VPS41基因变异所致常染色体隐性遗传小脑性共济失调，为国内首例报道。国外共报道13例 VPS41基因变异引起的遗传性共济失调，共7个变异位点，本例患儿2个变异未见文献报道，扩展了该疾病的基因谱。

abstractsThe clinical and genetic characteristics of a male child diagnosed with autosomal recessive cerebellar ataxia caused by compound heterozygous variants in VPS41, who was admitted to the Department of Neurology, Children′s Medical Center, Peking University First Hospital in July 2023, was retrospectively analyzed with a comprehensive literature review.The 10-year-old patient exhibited motor delay since infancy, achieving independent sitting at age 1 and independent walking at age 2, yet manifested unsteady gait with frequent falls.Motor skills progressed slowly, alongside academic underperformance.Physical examination revealed impaired ocular pursuit, nystagmus, and signs of ataxia.Brain magnetic resonance imaging (MRI) demonstrated mild cerebellar atrophy.Trio-based whole-exome sequencing identified compound heterozygous VPS41 variants (c.1247G>A, p.R416H and c. 1175dup, p.H392Qfs*2), segregating from each parent.This represents the first reported Chinese case of autosomal recessive cerebellar ataxia associated with VPS41 variants.Globally, only 13 patients with VPS41-related hereditary ataxia have been documented, involving 7 distinct variants.Both variants detected in this case are novel, expanding the disease′s mutational spectrum.