Skip to main content

Advertisement

SpringerLink
Log in

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

  • Letter to the Editor
  • Published:
Acta Neurologica Belgica 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. Selikhova M, Fedotova E, Wiethoff S, Schottlaender LV, Klyushnikov S, Illarioshkin SN, Houlden H (2017) A 30-year history of MPAN case from Russia. Clin Neurol Neurosurg 159:111–113. https://doi.org/10.1016/j.clineuro.2017.05.025

    Article  CAS  PubMed  Google Scholar 

  2. Deutschländer A, Konno T, Ross OA (2017) Mitochondrial membrane protein-associated neurodegeneration. Parkinsonism Relat Disord 39:1–3. https://doi.org/10.1016/j.parkreldis.2017.03.014

    Article  PubMed  Google Scholar 

  3. Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V (2017) The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN. Parkinsonism Relat Disord 39:64–70. https://doi.org/10.1016/j.parkreldis.2017.03.012

    Article  PubMed  Google Scholar 

  4. Skowronska M, Kmiec T, Jurkiewicz E, Malczyk K, Kurkowska-Jastrzębska I, Czlonkowska A (2017) Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12. Parkinsonism Relat Disord 39:71–76. https://doi.org/10.1016/j.parkreldis.2017.03.013

    Article  PubMed  Google Scholar 

  5. Al Macki N, Al Rashdi I (2017) A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani family with mitochondrial membrane protein-associated neurodegeneration (MPAN). Oman Med J 32(1):66–68. https://doi.org/10.5001/omj.2017.12

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Gore E, Appleby BS, Cohen ML, DeBrosse SD, Leverenz JB, Miller BL, Siedlak SL, Zhu X, Lerner AJ (2016) Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN). Neurocase 22(5):476–483

    Article  Google Scholar 

  7. Langwinska-Wosko E, Skowronska M, Kmiec T, Czlonkowska A (2016) Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN). J Neurol Sci 370:237–240. https://doi.org/10.1016/j.jns.2016.09.046

    Article  CAS  PubMed  Google Scholar 

  8. Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG (2016) A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq Neuropsiquiatr 74(7):587–596. https://doi.org/10.1590/0004-282X20160080(review)

    Article  PubMed  Google Scholar 

  9. Hogarth P (2015) Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord 8(1):1–13. https://doi.org/10.14802/jmd.14034

    Article  PubMed  PubMed Central  Google Scholar 

  10. Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S (2016) “Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN). Brain Dev 38(5):516–519. https://doi.org/10.1016/j.braindev.2015.10.017

    Article  PubMed  Google Scholar 

  11. Meyer E, Kurian MA, Hayflick SJ (2015) Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. Annu Rev Genom Hum Genet 16:257–279. https://doi.org/10.1146/annurev-genom-090314-025011

    Article  CAS  Google Scholar 

  12. Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S (2015) Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. J Neurol Sci 349(1–2):105–9. https://doi.org/10.1016/j.jns.2014.12.036

    Article  CAS  PubMed  Google Scholar 

  13. Amaral LL, Gaddikeri S, Chapman PR, Roy R, Gaddikeri RS, Marussi VH, Bag AK (2015) Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging 25(4):539–551. https://doi.org/10.1111/jon.12195

    Article  PubMed  Google Scholar 

  14. Hartig M, Prokisch H, Meitinger T, Klopstock T (2013) Mitochondrial membrane protein-associated neurodegeneration (MPAN). Int Rev Neurobiol 110:73–84. https://doi.org/10.1016/B978-0-12-410502-7.00004-1

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

Sequencing was provided by the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute Grant 2UM1HG006493 to Drs. Debbie Nickerson, Michael Bamshad, and Suzanne Leal.

Author information

Authors and Affiliations

  1. Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey

    Çiğdem Seher Kasapkara

  2. Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey

    Leyla Tümer, Fatih Ezgü & Aslı İnci

  3. Molecular and Medical Genetics, Pediatrics and Neurology, Oregon Health and Science University, Portland, Oregon, 97239, USA

    Allison Gregory, Rachel Fox, Caleb Rogers & Susan Hayflick

  4. Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children’s Research and Education Hospital, Ankara, Turkey

    Betül Emine Derinkuyu

Authors
  1. Çiğdem Seher Kasapkara
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Leyla Tümer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Allison Gregory
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Fatih Ezgü
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Aslı İnci
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Betül Emine Derinkuyu
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Rachel Fox
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Caleb Rogers
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Susan Hayflick
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Çiğdem Seher Kasapkara.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments.

Informed consent

Informed consent was obtained from our patient’s family included in the study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kasapkara, Ç.S., Tümer, L., Gregory, A. et al. A new NBIA patient from Turkey with homozygous C19ORF12 mutation. Acta Neurol Belg 119, 623–625 (2019). https://doi.org/10.1007/s13760-018-1026-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13760-018-1026-5

Search

Navigation