Pathology, diagnosis and discussion

Pathology showed extensive gliosis and spongiosus of the frontal cortex. Ubiquitin and TDP-43-positive, tau-negative inclusions were seen in the dentate gyrus of the hippocampus. FTD-MND was diagnosed.

This patient presented with classic signs of FTD, including poor judgment lack of insight disinhibition, apathy and compulsive overeating, which led him to be fired from his job and alienated from his wife. Like many patients with FTD, despite a relatively intact MMSE visuospatial and language function, he failed badly on tasks of generation and executive function. With a strong family history of amytrophic lateral sclerosis (ALS), it is not surprising that the patient, soon after demonstrating symptoms of FTD, also went on to develop ALS with evidence for dysphagia (difficulty swallowing) and showed pathology suggestive for FTD-ALS with ubiquitin and TDP-43-positive inclusions. The gene or genes that cause FTD-ALS still remain to be discovered although a locus on chromosome 9 has been identified that will likely explain many cases of FTD-ALS with a strong family history.