Few longitudinal studies have explored the progression of cognitive and functional impairment of patients with primary progressive aphasia (PPA). The aims of the study were to describe the clinical, neuroimaging, and genetic features of a cohort of 68 PPA patients, and to outline the natural history of the disease.
A sample of 23 patients with the logopenic variant, 26 with the nonfluent/agrammatic variant, and 19 with the semantic variant was retrospectively collected and followed-up for a maximum of 6 years. Clinical-neuropsychological assessment, fluorodeoxyglucose positron emission tomographic imaging, and genetic analyses were acquired at baseline. Disease progression was evaluated in terms of language impairment, global cognitive decline, and functional dependency.
During follow-up, one third of subjects presented total language loss, and 20% severe functional dependency. Global cognitive decline after the first year (hazard ratio, 5.93; confidence interval, 1.63-21.56) and high schooling (hazard ratio, 0.07; confidence interval, 0.008-0.74) represented risk factors for functional impairment. The apolipoprotein E status was associated with the progression of cognitive decline. Positive family history for dementia was frequent and 3 genetic autosomal dominant mutations were identified.
There were no differences in the progression of PPA subtypes. Genetics plays an important role in disease onset and progression.
Departments of *Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA)
†Biomedical, Experimental and Clinical Sciences “Mario Serio,” Nuclear Medicine Unit, University of Florence, Viale Pieraccini
‡IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy
The authors declare no conflicts of interest.
Reprints: Camilla Ferrari, MD, PhD, Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA) University of Florence, Viale Pieraccini, 6, Florence 50139, Italy (e-mail: firstname.lastname@example.org).
Received August 1, 2018
Accepted September 26, 2018