Co-Existing Charcot-Marie-Tooth Disease Type II and Parkinson's Disease Linked to a Novel DNAjB2 Pathogenic Variant.

IF 2.8 Q2 CLINICAL NEUROLOGY

Journal of Central Nervous System Disease Pub Date : 2026-03-04 eCollection Date: 2026-01-01 DOI:10.1177/11795735261428314

Alexandru N Lerint, Johanna S Canenguez Benitez, Vijaya Lakshmi Valaparla, Elena Shanina, Laura J Wu

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Abstract

Background: The DNAjB2 gene encodes a co-chaperone protein that interacts with the heat shock protein (HSP) family to maintain protein quality control and preserve neuronal integrity. Variants in this gene have been associated with the axonal form of Charcot-Marie-Tooth Disease (CMT2). Recent literature has also suggested an association between DNAjB2 variants and neurodegenerative disorders such as Parkinson's disease (PD).

Design/methods: Case Report.

Case description: We present a 36-year-old female patient initially diagnosed with CMT2 at the age of 28, who later developed symptoms of PD in her fourth decade. Genetic test revealed compound heterozygous pathogenic variants in DNAjB2 (c.352+1 G>A and c.175+2T>A).

Conclusion: To our knowledge, this is the first case report describing the dual phenotype of CMT2 and young-onset PD linked to compound heterozygosity in DNAjB2. The dual dysfunction of axonal degeneration and dopaminergic neuron loss suggests that DNAjB2 plays a pivotal role in maintaining proteostasis in both the peripheral and central nervous systems.

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一种新的DNAjB2致病变异与并存的II型和帕金森病有关。

背景：DNAjB2基因编码一种与热休克蛋白（HSP）家族相互作用的共伴侣蛋白，以维持蛋白质质量控制和保持神经元完整性。该基因的变异与轴突形式的沙科-玛丽-牙病（CMT2）有关。最近的文献也表明DNAjB2变异与神经退行性疾病如帕金森病（PD）之间存在关联。设计/方法：案例报告。病例描述：我们报告了一名36岁的女性患者，她在28岁时最初被诊断为CMT2，后来在她的40岁时出现了PD的症状。基因检测显示DNAjB2存在复合杂合致病变异（c.352+1 G>A和c.175+2T>A）。结论：据我们所知，这是第一个描述CMT2和年轻发病PD的双重表型与DNAjB2复合杂合性相关的病例报告。轴突变性和多巴胺能神经元丧失的双重功能障碍表明，DNAjB2在维持外周和中枢神经系统的蛋白质平衡中都起着关键作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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