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Background <p>Biallelic variants in <i>SYNJ1</i> were initially identified in early-onset Parkinson’s disease, often accompanied by atypical neurological manifestations. However, their occurrence in patients with a multiple system atrophy-mimicking phenotype has not been well described.</p> Methods <p>A 71-year-old Chinese woman with gradually worsening motor and autonomic symptoms was assessed. The evaluation included clinical examination, genetic testing, and functional studies.</p> Results <p>The patient exhibited gait instability, cerebellar ataxia, parkinsonism, urinary autonomic dysfunction, and poor levodopa responsiveness. Genetic analysis identified novel compound heterozygous <i>SYNJ1</i> variants (c.1574&#xa0;A &gt; G and c.142G &gt; T). Functional assays evaluating each variant individually showed reduced synaptojanin-1 abundance without altered localization.</p> Conclusions <p>This case expands the clinical context in which biallelic <i>SYNJ1</i> variants may be implicated and suggests that <i>SYNJ1</i> analysis could be considered in atypical parkinsonism with cerebellar dysfunction.</p>

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Biallelic SYNJ1 Variants in a patient with multiple system atrophy mimic syndrome

  • 期刊论文

  • 发表日期：

    2026年5月2日

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  • Yiying Zhang,
  • Yixin Kang,
  • Xiaosheng Zheng,
  • Haotian Wang,
  • Zhidong Cen,
  • Wei Luo

摘要

Background

Biallelic variants in SYNJ1 were initially identified in early-onset Parkinson’s disease, often accompanied by atypical neurological manifestations. However, their occurrence in patients with a multiple system atrophy-mimicking phenotype has not been well described.

Methods

A 71-year-old Chinese woman with gradually worsening motor and autonomic symptoms was assessed. The evaluation included clinical examination, genetic testing, and functional studies.

Results

The patient exhibited gait instability, cerebellar ataxia, parkinsonism, urinary autonomic dysfunction, and poor levodopa responsiveness. Genetic analysis identified novel compound heterozygous SYNJ1 variants (c.1574 A > G and c.142G > T). Functional assays evaluating each variant individually showed reduced synaptojanin-1 abundance without altered localization.

Conclusions

This case expands the clinical context in which biallelic SYNJ1 variants may be implicated and suggests that SYNJ1 analysis could be considered in atypical parkinsonism with cerebellar dysfunction.