Display options
Cite
Müller K, Oh KW, Nordin A, et al. De novo mutations in . J Neurol Neurosurg Psychiatry. 2021;93(2):201-206doi: 10.1136/jnnp-2021-327520.
Müller, K., Oh, K. W., Nordin, A., Panthi, S., Kim, S. H., Nordin, F., Freischmidt, A., Ludolph, A. C., Ki, C. S., Forsberg, K., Weishaupt, J., Kim, Y. E., & Andersen, P. M. (2022). De novo mutations in . Journal of neurology, neurosurgery, and psychiatry, 93(2), 201-206. https://doi.org/10.1136/jnnp-2021-327520
Müller, Kathrin, et al. "De novo mutations in ." Journal of neurology, neurosurgery, and psychiatry vol. 93,2 (2022): 201-206. doi: https://doi.org/10.1136/jnnp-2021-327520
Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM. De novo mutations in . J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206. doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13. PMID: 34518333.
Copy Download .nbib Format: NLM
Share it on

J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206. doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13.

De novo mutations in .

Journal of neurology, neurosurgery, and psychiatry

Kathrin Müller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim, Peter Munch Andersen

Affiliations

  1. Department of Neurology, Ulm University, Ulm, Germany.
  2. Department of Neurology, Hanyang University Seoul Hospital, Seongdong-gu, Seoul, Republic of Korea.
  3. Cell Therapy Center, College of Medicine, Hanyang University, Seoul, Republic of Korea.
  4. Clinical Science, Neurosciences, Umeå University, Umeå, Sweden.
  5. Genome Research Centre, GC Genome, Yongin, Republic of Korea.
  6. Medical Biosciences, Umeå University, Umeå, Sweden.
  7. Department for Neurodegeneration, Universitätsmedizin Mannheim, Mannheim, Germany.
  8. Department of Laboratory Medicine, Hanyang University College of Medicine, Seoul, Republic of Korea [email protected] [email protected].
  9. Clinical Science, Neurosciences, Umeå University, Umeå, Sweden [email protected] [email protected].

PMID: 34518333 DOI: 10.1136/jnnp-2021-327520

Abstract

OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or postzygotic during embryonal development can result in an apparently sporadic/isolated case of ALS later in life. We searched for de novo mutations in

METHODS: We analysed peripheral-blood exome, genome and Sanger sequencing to identify deleterious mutations in

RESULTS: We identified four sporadic ALS cases with de novo mutations in

CONCLUSIONS: De novo mutations are a cause of sporadic ALS and may also be underpinning smaller families with few affected ALS cases. It was not possible to ascertain if the origin of the de novo mutations was parental germline, zygotic or postzygotic during embryonal development. All ALS patients should be offered genetic counselling and genetic screening, the challenges of variant interpretation do not outweigh the potential benefits including earlier confirmed diagnosis and possible bespoken therapy.

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.

Keywords: ALS; motor neuron disease; neurogenetics

Conflict of interest statement

Competing interests: PMA serves on the scientific advisory boards of Biogen, Regeneron and Orphazyme A/S.

Publication Types