Case report of autosomal recessive cerebellar ataxia caused by mutations in VPS41 and literature review
10.3760/cma.j.cn101070-20241017-00670
- VernacularTitle:VPS41基因变异致常染色体隐性遗传小脑性共济失调1例并文献复习
- Author:
Gen GE
1
;
Taoyun JI
1
;
Yuan WU
1
;
Cuijie WEI
1
Author Information
1. 北京大学第一医院儿童医学中心神经内科，北京 102699
- Publication Type:Journal Article
- Keywords:
Autosomal recessive hereditary ataxia;
VPS41 gene;
Cerebellar atrophy
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(10):783-786
- CountryChina
- Language:Chinese
-
Abstract:
The 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.
