The Phenotypic and Genotypic Spectrum of CSF1R‐Related Disorder in China

Author:

Wu Jingying12,Cheng Xin1,Ji Duxin13,Niu Huiwen4,Yao Songquan4,Lv Xukun4,Wang Jianqiang4,Li Ziyi1,Zheng Haoran15,Cao Yuwen1,Zhan Feixia1,Zhang Mengyuan15,Tian Wotu1,Huang Xiaojun1,Luan Xinghua1,Cao Li126ORCID

Affiliation:

1. Department of Neurology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China

2. Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform Shanghai China

3. Department of Neurology Suzhou Hospital of Anhui Medical University Suzhou China

4. School of Medicine Shanghai Jiao Tong University Shanghai China

5. Department of Neurology The First Hospital Affiliated to Anhui University of Science & Technology Huainan China

6. China Adult‐Onset Leukoencephalopathy with Neuroaxonal Spheroids and Pigmented Glia Collaborative Group (CACG) Shanghai China

Abstract

AbstractBackgroundColony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated.ObjectiveThe objective of the study is to clarify the core features and influence factors of CRD patients in China.MethodsClinical and genetic‐related data of CRD patients in China were collected. Mini‐Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), and Sundal MRI Severity Score were evaluated. Whole exome sequencing was used to analyze the CSF1R mutation status. Patients were compared between different sexes, mutation types, or mutation locations.ResultsA total of 103 patients were included, with a male‐to‐female ratio of 1:1.51. The average age of onset was (40.75 ± 8.58). Cognitive impairment (85.1%, 86/101) and parkinsonism (76.2%, 77/101) were the main clinical symptoms. The most common imaging feature was bilateral asymmetric white matter changes (100.0%). A total of 66 CSF1R gene mutants (22 novel mutations) were found, and 15 of 92 probands carried c.2381 T > C/p.I794T (16.30%). The MMSE and MoCA scores (17.0 [9.0], 11.90 ± 7.16) of female patients were significantly lower than those of male patients (23.0 [10.0], 16.36 ± 7.89), and the white matter severity score (20.19 ± 8.47) of female patients was significantly higher than that of male patients (16.00 ± 7.62). There is no statistical difference in age of onset between male and female patients.ConclusionsThe core manifestations of Chinese CRD patients are progressive cognitive decline, parkinsonism, and bilateral asymmetric white matter changes. Compared to men, women have more severe cognitive impairment and imaging changes. c.2381 T > C/p.I794T is a hotspot mutation in Chinese patients. © 2024 International Parkinson and Movement Disorder Society.

Funder

Shanghai Municipal Human Resources Development Program for Outstanding Leaders in Medical Disciplines

National Natural Science Foundation of China

Publisher

Wiley

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