Patients manifesting both amyotrophic lateral sclerosis and frontotemporal dementia and not carrying the C9orf72 expansion mutation harbour a substantial genetic burden.
The Molecular Genetics group from the Sant Pau Memory Unit has published a study where, through next generation sequencing technologies, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (DFT) causing genes have been analized in a group of 54 patients manifesting both conditions and not carrying the most important genetic cause of these neurodegenerative diseases, the C9orf72 hexanucleotide repeat expansion. The study titled as “Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation” was published September 9th in the Journal of Neurology, Neurosurgery & Psychiatry.
More details about this article can be found in this PubMed link.