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Journal of Neurology

, Volume 263, Issue 10, pp 2136–2138 | Cite as

SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China

  • Yi-Jing Yang
  • Zhi-Fan Zhou
  • Xin-Xin Liao
  • Ying-Ying Luo
  • Zi-Xiong Zhan
  • Mu-Fang Huang
  • Lu Zhou
  • Bei-Sha Tang
  • Lu Shen
  • Juan DuEmail author
Letter to the Editors

Dear Sirs,

Hereditary spastic paraplegias (HSP/SPGs) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders. Inheritance of the disease has been reported to be autosomal dominant (AD), autosomal recessive (AR), or X-linked, and isolated cases are often seen in clinical practice [ 1]. ARHSP accounts for approximately 15–20 % of all types of HSP, almost 52 different loci and 45 genes with AR inheritance have been described, and this number is likely to further increase in the near future [ 1, 2]. The most frequent ARHSP form associating with thin corpus callosum (TCC), cognitive impairment, and/or white matter abnormalities (WMA) is the SPG11, followed by SPG15, SPG56 ( CYP2U1 gene, MIM 609471) and SPG46 ( GBA2 gene, MIM 610670) [ 2, 3, 4, 5, 6, 7]. Till now, there is no study about SPG46 or SPG56 mutation in China, and we tried to fill this gap by screening a cohort of 44 Chinese patients which included 23 unrelated probands with ARHSP and 21 sporadic...

Keywords

Intellectual Disability Mental Impairment White Matter Abnormality Hereditary Spastic Paraplegia Autosomal Recessive 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We are grateful to all of the subjects for their participation in our study. This work was supported by the National Natural Sciences Foundation of China (No: 30971034, 81171068, 81100845) and the Project in the Major State Basic Research Development Program of China (973 Program) (2011CB510000).

Compliance with ethical standards

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standards

All human studies have been approved by the appropriate ethics committee and have, therefore, been performed in accordance with the ethical standards laid down in 1964 Declaration of Helsinki and its later amendments. All persons gave their informed consent prior to their inclusion in the study.

Supplementary material

Supplementary material 1 (MOV 61678 kb)

415_2016_8256_MOESM2_ESM.docx (23 kb)
Supplementary material 2 (DOCX 23 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Yi-Jing Yang
    • 1
  • Zhi-Fan Zhou
    • 1
  • Xin-Xin Liao
    • 1
  • Ying-Ying Luo
    • 1
  • Zi-Xiong Zhan
    • 1
  • Mu-Fang Huang
    • 1
  • Lu Zhou
    • 1
  • Bei-Sha Tang
    • 1
    • 2
    • 3
  • Lu Shen
    • 1
    • 2
    • 3
  • Juan Du
    • 1
    Email author
  1. 1.Department of Neurology, Xiangya HospitalCentral South UniversityChangshaChina
  2. 2.The State Key Laboratory of Medical GeneticsCentral South UniversityChangshaChina
  3. 3.The Key Laboratory of Hunan Province in Neurodegenerative DisordersCentral South UniversityChangshaChina

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