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<p>Ceroid lipofuscinosis type 11 (CLN11) is an extremely rare inherited neurodegenerative disorder, with only 29 cases reported worldwide to date. Additional case reports are urgently needed to further elucidate the clinical and epidemiological characteristics of this disease. In this study, we report the first documented case of CLN11 in China, which also represents the first globally reported case associated with a novel mutation involving complete deletion of exon 1 in the <i>GRN</i> gene. Moreover, we provide a comprehensive review of the clinical and subclinical features, management strategies, and outcomes of all reported CLN11 cases. For the first time, we propose a simplified clinical scoring system for CLN11 to assess disease severity. Our study may advance current understanding of <i>GRN</i>-related neurodegenerative disorders and expand the phenotypic and genotypic landscape of CLN11.</p>

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The first report of ceroid lipofuscinosis type 11 in China: a novel mutation of GRN and updated clinical review

  • 期刊论文

  • 发表日期：

    2025年9月29日

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  • Difang Shi,
  • Jianjian Bao,
  • Haohao Wu,
  • Baogang Huang,
  • Yan Zheng,
  • Fengming Xu,
  • Hanmin Wang,
  • Jia Liu,
  • Shaoyong Guan,
  • Kang Du

摘要

Ceroid lipofuscinosis type 11 (CLN11) is an extremely rare inherited neurodegenerative disorder, with only 29 cases reported worldwide to date. Additional case reports are urgently needed to further elucidate the clinical and epidemiological characteristics of this disease. In this study, we report the first documented case of CLN11 in China, which also represents the first globally reported case associated with a novel mutation involving complete deletion of exon 1 in the GRN gene. Moreover, we provide a comprehensive review of the clinical and subclinical features, management strategies, and outcomes of all reported CLN11 cases. For the first time, we propose a simplified clinical scoring system for CLN11 to assess disease severity. Our study may advance current understanding of GRN-related neurodegenerative disorders and expand the phenotypic and genotypic landscape of CLN11.