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Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation

Title
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation
Author
오기욱
Keywords
dynactin 1; distal hereditary motor neuropathy 7B; vocal cord; arytenoidectomy; frequency
Issue Date
2016-10
Publisher
SPANDIDOS PUBL LTD
Citation
MOLECULAR MEDICINE REPORTS, v. 14, NO. 4, Page. 3362-3368
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.
URI
https://www.spandidos-publications.com/10.3892/mmr.2016.5664https://repository.hanyang.ac.kr/handle/20.500.11754/100580
ISSN
1791-2997; 1791-3004
DOI
10.3892/mmr.2016.5664
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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