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Related Experiment Video

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

Xingyu Xia1,2,3, Xi Chen1,2, Yiming Sun1,2

  • 1Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, People's Republic of China.

Degenerative Neurological and Neuromuscular Disease
|February 25, 2026
PubMed
Summary

Multisystem proteinopathy (MSP) genetic variants were identified in 29 Chinese patients, primarily affecting males and presenting with ALS, IBM, or FTD. Next-generation sequencing aids in diagnosing these complex neuromuscular and cognitive disorders.

Keywords:
ANXA11amyotrophic lateral sclerosisinclusion body myopathymultisystem proteinopathyneurodegeneration

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Multisystem proteinopathy (MSP) encompasses disorders like inclusion body myopathy (IBM), amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Paget disease of bone (PDB).
  • Recent discoveries implicate additional genes such as MATR3, OPTN, and ANXA11 in MSP-like conditions, expanding the known genetic causes.

Purpose of the Study:

  • To investigate the genetic and clinical characteristics of multisystem proteinopathy (MSP) and related disorders within a large Chinese patient cohort.
  • To identify specific gene variants associated with MSP and analyze their clinical manifestations in the studied population.

Main Methods:

  • Next-generation sequencing (NGS) and Sanger sequencing were employed to detect gene variants in 953 patients diagnosed with ALS, IBM, or dementia.
  • Clinical, pathological, imaging, and electromyography data were systematically collected and analyzed for 29 identified patients with MSP-related gene variants.

Main Results:

  • Twenty-nine patients (3.0%) carried MSP-related gene variants, predominantly male (72.4%), with onset between the third and fifth decades.
  • ALS was the most common phenotype (20/29), followed by IBM (10/29) and FTD (7/29). ANXA11 (34.5%) and VCP (20.7%) were the most frequent variants.
  • Distinct clinical presentations were observed based on gene variants: VCP variants often involved lower limbs, while ANXA11/OPTN variants showed upper limb or bulbar onset. ALS-onset patients progressed faster than myopathy-onset patients.

Conclusions:

  • This study expands the understanding of the clinical and genetic spectrum of MSP and related disorders in the Chinese population.
  • The findings highlight the diagnostic utility of next-generation sequencing for unexplained neuromuscular or cognitive symptoms, particularly with multisystem involvement.