Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive FTD. Clinical and pathological overlap between ALS and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD.
Methods: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 familial ALS and 49 patients with ALS-FTD.
Results: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb-onset sporadic ALS (p.T182M), though the pathogenicity of these variants remains unclear.
Conclusion: PGRN mutations are not a common cause of ALS phenotypes.
- amyotrophic lateral sclerosis
- amyotrophic lateral sclerosis - frontotemporal dementia