Skip to main content
SpringerLink
Log in

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

  • LETTER TO THE EDITORS
  • Published:
neurogenetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62(1):1–13

    PubMed  Google Scholar 

  2. Mole SE, Williams RE, Goebel HH (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6:107–126

    Article  PubMed  Google Scholar 

  3. Sleat DE, Donnelly RJ, Lackland H et al (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802–1805

    Article  CAS  PubMed  Google Scholar 

  4. Rawlings ND, Barrett AJ (1999) Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochem Biophys Acta 1429:496–500

    Article  CAS  PubMed  Google Scholar 

  5. Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P (1999) Mutational analysis of the defective protease in classical late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:1511–1523

    Article  CAS  PubMed  Google Scholar 

  6. Steinfeld R, Heim P, Von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschutter A (2002) Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112:347–354

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported in part by grants from the National Nature Science Foundation of China (no 30870876) and the Guangdong Natural Science Foundation (no 2008B030301250).

Conflict of interest statement

None of the authors has any conflict of interest to disclose.

Author information

Authors and Affiliations

  1. Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital of Guangzhou Medical University, Chang-gang-dong road 250, Guangzhou, 510260, China

    Yu-Liang Wang, Xing-Wang Song, Yi-Wu Shi, Bin Tang, Sheng-Qiang Chen, Mei-Mei Gao, Wei Di, Yue-Sheng Long, Yong-Hong Yi & Wei-Ping Liao

  2. Institute of Neuroscience, Guangzhou Medical University, Chang-gang-dong road 250, Guangzhou, 510260, China

    Yu-Liang Wang, Xing-Wang Song, Yi-Wu Shi, Bin Tang, Sheng-Qiang Chen, Mei-Mei Gao, Wei Di, Yue-Sheng Long, Yong-Hong Yi & Wei-Ping Liao

  3. Pediatric Department, Buji People’s Hospital, Shenzhen, 518112, China

    Zhi-Yong Zeng

  4. Department of Pathology, The Second Affiliated Hospital of Guangzhou Medical University, Chang-gang-dong road 250, Guangzhou, 510260, China

    Zhuo-Fang Hao

Authors
  1. Yu-Liang Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Zhi-Yong Zeng
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Xing-Wang Song
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Zhuo-Fang Hao
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yi-Wu Shi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Bin Tang
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sheng-Qiang Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Mei-Mei Gao
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Wei Di
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Yue-Sheng Long
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Yong-Hong Yi
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Wei-Ping Liao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yong-Hong Yi.

Additional information

Yu-Liang Wang and Zhi-Yong Zeng have contributed equally to this research.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wang, YL., Zeng, ZY., Song, XW. et al. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. Neurogenetics 12, 93–95 (2011). https://doi.org/10.1007/s10048-010-0258-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10048-010-0258-1

Keywords

Search

Navigation