Data from: 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
clinical perspective, ALSC9+ patients showed significantly lower scores
compared to ALSC9- patients at King’s stage 1 and 3 in almost all the
examined neuropsychological domains, while at King’s stage 2 ALSC9+
patients were more severely affected only in the verbal memory domain.
Behavioral function was comparably impaired in the two cohorts.
Conclusions. ALSC9+ patients show a different neuropsychological profile
compared to ALSC9- ones, being more impaired in executive functions and
verbal memory domains at all King’s stages. Verbal memory emerged as a
particularly vulnerable function in ALSC9+, with worse performances even
when patients were still classified as cognitively normal.