Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation

  • Authors:
    • Sun Hee Hwang
    • Eun Ja Kim
    • Young Bin Hong
    • Jaesoon Joo
    • Sung Min Kim
    • Soo Hyun Nam
    • Hyun Dae Hong
    • Seung Hyun Kim
    • Kiwook Oh
    • Jeong‑Geun Lim
    • Jeong Hee Cho
    • Ki Wha Chung
    • Byung‑Ok Choi
  • View Affiliations

  • Published online on: August 22, 2016     https://doi.org/10.3892/mmr.2016.5664
  • Pages: 3362-3368
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have been reported. In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing. Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation. The families of the present study with the DCTN1 mutation had a milder disease with a later onset compared with the previously described patients. No affected family members exhibited facial muscle weakness or bulbar involvement. One family member demonstrated vocal cord palsy as the initial sign of disease; however, in the other family hand muscle weakness was the first major symptom. No affected patients demonstrated sensory loss or upper motor neuron involvements. Although this is only the second report of dHMN7B resulting from a DCTN1 mutation, the frequency of the DCTN1 mutation was not low in the Korean population examined, and clinical heterogeneities were observed in patients with the DCTN1 mutation. Therefore, it may be beneficial to screen all dHMN patients for the DCTN1 mutation.
View Figures
View References

Related Articles

Journal Cover

October-2016
Volume 14 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Lim JG, et al: Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. Mol Med Rep 14: 3362-3368, 2016.
APA
Hwang, S.H., Kim, E.J., Hong, Y.B., Joo, J., Kim, S.M., Nam, S.H. ... Choi, B. (2016). Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. Molecular Medicine Reports, 14, 3362-3368. https://doi.org/10.3892/mmr.2016.5664
MLA
Hwang, S. H., Kim, E. J., Hong, Y. B., Joo, J., Kim, S. M., Nam, S. H., Hong, H. D., Kim, S. H., Oh, K., Lim, J., Cho, J. H., Chung, K. W., Choi, B."Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation". Molecular Medicine Reports 14.4 (2016): 3362-3368.
Chicago
Hwang, S. H., Kim, E. J., Hong, Y. B., Joo, J., Kim, S. M., Nam, S. H., Hong, H. D., Kim, S. H., Oh, K., Lim, J., Cho, J. H., Chung, K. W., Choi, B."Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation". Molecular Medicine Reports 14, no. 4 (2016): 3362-3368. https://doi.org/10.3892/mmr.2016.5664