中国西南地区 - 相关帕金森综合征的临床与遗传特征及文献综述

Clinical and genetic characteristics of -related parkinsonism in Southwest China and a comprehensive literature review.

作者信息

Cheng Yangfan, Zhang Yang, Xiao Yi, Wang Shichan, Chen Sihui, Zheng Xiaoting, Yang Tianmi, Jiang Qirui, Huang Jingxuan, Lin Junyu, Ou Ruwei, Li Chunyu, Wei Qianqian, Chen Xueping, Shang Huifang

机构信息

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare disease center, West China Hospital, Sichuan University, Chengdu, China.

National Clinical Research Center for Geriatric, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, Chengdu, China.

出版信息

J Med Genet. 2025 Jul 21;62(8):508-515. doi: 10.1136/jmg-2024-110479.

DOI:10.1136/jmg-2024-110479

PMID:40360258

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12322480/

Abstract

BACKGROUND

Biallelic mutations are associated with early onset autosomal recessive parkinsonism, exhibiting a broad spectrum of clinical heterogeneity.

OBJECTIVE

To comprehensively characterise the clinical, imaging and genetic features of -related parkinsonism.

METHODS

We report 14 new cases of -related parkinsonism in Southwest China and conduct a systematic literature review.

RESULTS

Among the 14 patients in our cohort, 16 variants were identified, including seven novel and nine previously reported variants. The mean age at symptom onset was 26.50±6.57 years. The most common initial presentation was parkinsonism (9/14, 64.3%), followed by gait disturbance (6/14, 42.9%) and psychiatric symptoms (1/14, 7.1%). A literature review identified 118 patients with -related parkinsonism, with a mean age at onset of 24.53±8.84 years. The most common initial clinical features included parkinsonism (61/117, 52.1%), cerebellar signs (46/85, 54.1%), cognitive impairment (65/92, 70.7%) and psychiatric symptoms (80/93, 86.0%). Subgroup analysis showed that the mean age at symptom onset was older in Chinese patients (26.65±7.08 years) compared with those of European ancestry (20.83±9.79 years) (p=0.016). Additionally, patients of European ancestry showed delayed parkinsonism 5.35±8.14 years after onset. Iron deposition was reported more frequently in patients of European ancestry (10/16, 62.5%) than that in Chinese patients (6/37, 16.2%) (p=0.0002).

CONCLUSION

Our study provides new insights on the diverse clinical spectrum of -related parkinsonism, encompassing parkinsonian features, psychiatric symptoms, cognitive impairment and early levodopa-induced motor complications.

摘要

背景

双等位基因突变与早发性常染色体隐性帕金森病相关，表现出广泛的临床异质性。

目的

全面描述相关帕金森病的临床、影像学和遗传学特征。

方法

我们报告了中国西南部14例新的相关帕金森病病例，并进行了系统的文献综述。

结果

在我们队列中的14例患者中，鉴定出16种变异，包括7种新变异和9种先前报道的变异。症状出现的平均年龄为26.50±6.57岁。最常见的初始表现是帕金森病（9/14，64.3%），其次是步态障碍（6/14，42.9%）和精神症状（1/14，7.1%）。文献综述确定了118例相关帕金森病患者，发病的平均年龄为24.53±8.84岁。最常见的初始临床特征包括帕金森病（61/117，52.1%）、小脑体征（46/85，54.1%）、认知障碍（65/92，70.7%）和精神症状（80/93，86.0%）。亚组分析显示，中国患者症状出现的平均年龄（26.65±7.08岁）比欧洲血统患者（20.83±9.79岁）大（p=0.016）。此外，欧洲血统的患者在发病后5.35±8.14年出现延迟性帕金森病。据报道，欧洲血统患者（10/16，62.5%）比中国患者（6/37，16.2%）更频繁地出现铁沉积（p=0.0002）。