Differential neuropsychological profile of ALS patients with and without C9orf72 mutation

Objective. To determine whether the neuropsychological profiles of ALS patients with (ALSC9+) and without (ALSC9-) C9orf72 expansion are different we administered a battery of neuropsychological tests to 741 ALS patients (68 ALSC9+ and 673 ALSC9-) and 129 controls.

Methods. The study population includes 741 ALS patients who were consecutively diagnosed at the Turin ALS expert center in the period 2010-2018 and who underwent both cognitive/behavioral and genetic testing. Patients’ neuropsychological patterns were compared (a) at the same degree of cognitive and behavioral deficit according to the revised ALS-FTD Consensus Criteria; and (b) at the same level of motor impairment according to the King’s staging system.

Results. Despite being about 7 years younger, ALSC9+ patients had significant lower scores in tests exploring executive functions, and verbal memory both when classified as cognitively normal and when diagnosed in the intermediate cognitive categories. Considering the c...