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February 21, 2026Degenerative Neurological and Neuromuscular DiseaseOpen Access

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders

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Authors

XXXingyu XiaXCXi ChenYSYiming Sun

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Overview

Reveals genetic and clinical characteristics in Chinese patients with multisystem proteinopathy, suggesting improved diagnostic approaches.

Key Points

  • The research aims to explore genetic and clinical features of multisystem proteinopathy and related disorders in a Chinese population.
  • Identified 29 patients with MSP-related gene variants from a cohort of 953 diagnosed with ALS, IBM, or dementia.
  • Used next-generation sequencing to detect variants in MSP-related genes, confirmed by Sanger sequencing.
  • Collected and analyzed clinical, pathological, imaging, and electromyography data.
  • 3.0% of patients identified as carrying MSP-related gene variants, predominantly male (72.4%).
  • Most common phenotypes were ALS (20/29), followed by IBM (10/29) and FTD (7/29).
  • Common genetic variants were found in ANXA11 (34.5%) and VCP (20.7%).

Cite This Study

Xia et al. (2026) studied this question.

synapsesocial.com/papers/69994b64873532290d01f965https://doi.org/10.2147/dnnd.s568971
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