Clinical and neurophysiological characterization of p.Gly95Ser mutation in DCTN1: a study in a Thai family and a brief review
Issued Date
2024-01-01
Resource Type
ISSN
15901874
eISSN
15903478
Scopus ID
2-s2.0-85206638093
Pubmed ID
39395070
Journal Title
Neurological Sciences
Rights Holder(s)
SCOPUS
Bibliographic Citation
Neurological Sciences (2024)
Suggested Citation
Pasutharnchat N., Taychargumpoo C., Amornvit J., Sombuntham P., Sirichana W. Clinical and neurophysiological characterization of p.Gly95Ser mutation in DCTN1: a study in a Thai family and a brief review. Neurological Sciences (2024). doi:10.1007/s10072-024-07801-4 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/101750
Title
Clinical and neurophysiological characterization of p.Gly95Ser mutation in DCTN1: a study in a Thai family and a brief review
Corresponding Author(s)
Other Contributor(s)
Abstract
Introduction: Mutations in the Dynactin 1 (DCTN1) gene lead to various neurodegenerative disorders. The p.Gly59Ser mutation, the first pathogenic mutation identified in DCTN1, was initially reported in a family with distal hereditary motor neuropathy and early vocal cord paralysis. Since its discovery in 2003, this mutation has been documented in only three families worldwide, to the best of our knowledge. Methods: This study examines six patients from a Thai family carrying the p.Gly59Ser mutation in DCTN1 and includes a literature review. Results: Five of the patients were female. The mean age of onset was 32.6 ± 1.9 years. Thai patients showed early involvement of intrinsic hand, facial, and bulbar muscles, with vocal cord impairment manifesting later in the disease course. Tongue fasciculations, not previously reported with this mutation, were observed in most Thai patients. Bilateral split-hands were consistently noted. Arytenoidectomy and cordotomy have proven beneficial in relieving upper airway obstruction and preventing life-threatening upper airway complications from vocal cord paralysis. Conclusions: The p.Gly59Ser mutation in DCTN1 presents with autosomal-dominant, adult-onset, lower motor neuronopathy/neuropathy. Compared to earlier reports, Thai patients exhibited more widespread involvement, including facial, bulbar, tongue, vocal cord, and limb muscles. In addition to vocal cord paralysis, the split-hand phenomenon emerges as another clinical hallmark of this condition.