Objectives: Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the common features of neurodegeneration in multiple sclerosis (MS), FTD and ALS, sequence variants of the DCTN1 gene may be a contributory factor to neurodegeneration in MS.
Methods: We investigated a total of 200 MS patients and 200 controls. A total of 100 patients had a relapsing-remitting form of MS, 100 cases were primary progressive. Sequence alterations were screened for in the coding region of DCTN1 using heteroduplex and sequence analyses.
Results: Two heterozygous missense mutations (T1249I, I196V) were found in two healthy control subjects. No mutations were identified in 200 MS patients. The frequency of a known single nucleotide polymorphism (R495Q) was not significantly different between patients and controls.
Conclusion: The results indicate that the DCTN1 gene is probably not influencing susceptibility to neurodegeneration in MS.