Skip to main content
SpringerLink
Log in

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

  • Brief Communication
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disorder characterized by neurodegeneration and iron accumulation in the brain. Classic and atypical PKAN are distinguished on the basis of age at onset and disease progression. PANK2, localized on chromosome20p13, is confirmed as the responsible gene. We report two Chinese siblings with atypical PKAN, who had a 26- and 24-year disease course, respectively. Brain MRI scans of the two siblings showed the specific “eye of the tiger” sign. Genetic analysis identified novel compound heterozygous mutations (IVS1-2 A>T, c.T1130C) in PANK2 gene, which were confirmed to be deleterious. We verify the clinical heterogeneity even in siblings with identical genotype and expand the gene mutation pool for PKAN.

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
Fig. 2

References

  1. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28:345–349

    Article  PubMed  CAS  Google Scholar 

  2. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH et al (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 348:33–40

    Article  PubMed  CAS  Google Scholar 

  3. Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T et al (2006) Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 59:248–256

    Article  PubMed  CAS  Google Scholar 

  4. Zhang YH, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF et al (2005) Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. Mov Disord 20:819–821

    Article  PubMed  Google Scholar 

  5. Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ (2009) Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Mov Disord 24:940–941

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We thank the patients and their families for their participation. This work was supported by the Research Award Fund for Outstanding Young Scientist of Shandong Province (Grant no. BS2012YY013) and the National Science Foundation Research Grant (Grant no. 81171182).

Author information

Authors and Affiliations

  1. Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital, Shandong University, No. 107 of Wenhua West Road, Jinan, People’s Republic of China

    Jingli Shan, Bing Wen, Jun Zhu, Pengfei Lin, Jinfan Zheng & Chuanzhu Yan

Authors
  1. Jingli Shan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bing Wen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jun Zhu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Pengfei Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jinfan Zheng
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Chuanzhu Yan
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Chuanzhu Yan.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PDF 72 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Shan, J., Wen, B., Zhu, J. et al. Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. Neurol Sci 34, 561–563 (2013). https://doi.org/10.1007/s10072-012-1177-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-012-1177-8

Keywords

Search

Navigation