The importance of offering genetic counseling and testing to all persons diagnosed with frontotemporal degeneration spectrum disorders

Frontotemporal degeneration (FTD) spectrum disorders encompass a heterogeneous group of neurodegenerative conditions characterized by altered cognition, behavior, speech/language, and movement.¹ Clinical overlap with other conditions makes accurate and timely diagnosis challenging, causing delayed and underdiagnosis of FTD.^e1 FTD and amyotrophic lateral sclerosis (ALS) have overlapping pathology.^e2,e3 Pathogenic variants causing FTD/ALS spectrum disorders have been identified in over 30 genes.^e1,e4 Causal variants are most often identified when family history is positive but are also found in apparently sporadic cases. Broad genetic testing in ALS, agnostic of family history, increases identification of pathogenic variants with potential clinical actionability,² and several publications recommend that clinicians offer genetic testing to all diagnosed with ALS.^3,4