Skip to main content
Log in

ISCA2 mutations manifest differentially from DARS2 mutations

  • Commentary
  • Published:
Metabolic Brain Disease Aims and scope Submit manuscript

The Original Article was published on 23 January 2018

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

Access this article

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

Instant access to the full article PDF.

References

  • Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N (2018) Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases. Eur J Paediatr Neurol 22:46–55

    Article  PubMed  Google Scholar 

  • Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52:186–194

    Article  CAS  PubMed  Google Scholar 

  • Finsterer J, Frank M (2015) Glucocorticoids for mitochondrial disorders. Singap Med J 56:122–123

    Article  Google Scholar 

  • Finsterer J, Zarrouk-Mahjoub S (2018) Involvement of the spinal cord in mitochondrial disorders (MIDs). J Neurosci Rural Pract 9:245–251

    Article  PubMed  PubMed Central  Google Scholar 

  • Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S (2018) Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis 33:805–812. https://doi.org/10.1007/s11011-017-0181-3

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Contributions

JF: design, literature search, discussion, first draft, SZ-M: literature search, critical review.

Corresponding author

Correspondence to Josef Finsterer.

Ethics declarations

Conflicts of interest

There are no conflicts of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Finsterer, J., Zarrouk-Mahjoub, S. ISCA2 mutations manifest differentially from DARS2 mutations. Metab Brain Dis 33, 1389–1390 (2018). https://doi.org/10.1007/s11011-018-0253-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11011-018-0253-z

Navigation