Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review

  • Jong Hyeon Ahn
  • Ah Reum Kim
  • Chung Lee
  • Nayoung K. D. Kim
  • Nam-Soon Kim
  • Woong-Yang Park
  • Minkyeong Kim
  • Jinyoung Youn
  • Jin Whan Cho
  • Ji Sun KimEmail author
Short Report


Recent advances in next-generation sequencing technologies have uncovered the genetic backgrounds of various diseases. Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. In this study, we aimed to review the previous reports of type 1 sialidosis and compare those with the first case of type 1 sialidosis in Korea. A 36-year-old woman presented with progressive ataxia, myoclonus, and seizure since the age of 12. Whole-exome sequencing revealed a pathogenic missense variant c.928G > A (p.D310N) and novel c.15_16del (p.P6Qfs*21) of the NEU1 gene as final causal candidate as compound heterozygotes. We reviewed the literature and selected the clinical reports of genetically confirmed type 1 sialidosis patients. A total of 45 patients in 17 reports were identified. Cherry-red spot, myoclonus, ataxia, and seizure were reported in 51.2%, 100.0%, 87.8%, and 73.7% of patients, respectively. Abnormalities of cognitive function, EEG, and brain MRI and visual symptoms were reported in 22.2%, 40.7%, 66.7%, and 70.2% of patients, respectively. Overall, our patient showed similar clinical features to previous type 1 sialidosis patients, but she did not complain of visual symptoms despite having cherry-red spots. We summarize the clinical features of type 1 sialidosis and report the first case of type 1 sialidosis with novel deletion variant in the NEU1 gene in the Korean population. Our study suggests the importance of ophthalmologic examinations in patients with myoclonus, ataxia, and seizure who do not complain of visual symptoms.


Sialidosis NEU1 gene Next-generation sequencing Lysosomal storage disease 


Funding Information

This work was supported by the KRIBB Research Initiative Program and by the Basic Science Research Program of the National Research Foundation of Korea (NRF) funded by the Ministry of Science and ICT (NRF-2014M3C9A2064619). This work was also supported by the Bio & Medical Technology Development Program of the National Research Foundation (NRF) funded by the Korean government the Ministry of Science and ICT (NRF-2017R1A2B4005276).

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Jong Hyeon Ahn
    • 1
    • 2
  • Ah Reum Kim
    • 3
  • Chung Lee
    • 3
  • Nayoung K. D. Kim
    • 3
  • Nam-Soon Kim
    • 4
    • 5
  • Woong-Yang Park
    • 3
    • 6
  • Minkyeong Kim
    • 1
    • 2
  • Jinyoung Youn
    • 1
    • 2
  • Jin Whan Cho
    • 1
    • 2
  • Ji Sun Kim
    • 1
    • 2
    Email author
  1. 1.Department of Neurology, Samsung Medical CenterSungkyunkwan University School of MedicineSeoulRepublic of Korea
  2. 2.Neuroscience Center, Samsung Medical CenterSeoulRepublic of Korea
  3. 3.Samsung Medical CenterSamsung Genome InstituteSeoulRepublic of Korea
  4. 4.Research CenterKorea Research Institute of Bioscience and Biotechnology (KRIBB)DaejeonRepublic of Korea
  5. 5.Department of Functional Genomics, KRIBB School of BioscienceKorea University of Science and Technology (UST)DaejeonRepublic of Korea
  6. 6.Department of Molecular Cell BiologySungkyunkwan University School of MedicineSuwonRepublic of Korea

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