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Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field. We consider 64 neuropsychological evaluations assessing mnesic, linguistic and executive functions collected from 2013 to 2015 in patients attending at Motor Neuron Disease Centre of University of Padova. The battery consisted in: Digit Span forwards and backwards, Prose Memory test, Phonemic Verbal fluency and Trail making tests. ANCOVA statistics were employed to compare tests scores results with those obtained from a sample of healthy control subjects. Multiple linear regressions were used to study the effect on cognitive performance of CAG-repeat expansion, the degree of androgen insensitivity and their interaction to cognitive performance. Statistical analyses did not reveal altered scores in any neuropsychological tests among those adopted. Interestingly, patients performed significantly better in the Prose Memory test's score. No relevant associations were found with genetic, hormonal or clinical patients' profile. Results inconsistent with previous studies have been interpreted according to the phenomenon of somatic mosaicism. We suggest a testosterone-related and the mood state-dependant perspectives as two possible interpretations of the enhanced performances in the Prose Memory test. Further studies employing more datailed tests batteries are encouraged.

Background: Cognitive impairment, mainly characterised by executive dysfunction, occurs in about half of cases in amyotrophic lateral sclerosis (ALS). There is evidence that gender influences some clinical features of the disease, but its influence on the cognitive spectrum is unknown. Our objective was to investigate the impact of gender on cognitive profiles of patients with ALS., Methods: A retrospective study based on an exhaustive neuropsychological battery was performed in a group of 165 (70 females, 95 males) sporadic, non-demented patients with ALS compared with 134 healthy control participants. This assessment primarily focused on executive, memory and language functions., Results: 47 (29%) patients revealed impairment in executive function and 30 (18%) patients revealed cognitive non-executive impairment. Independent from mood tone and clinical variables, a significantly greater executive impairment was determined in female patients than in male patients and control participants. The relative risk for ALS females having impairment in executive function compared with male patients was 2.6 (95% CI 1.6 to 4.4; p=0.0003). ALS females scored lower in Phonemic Fluency, Trial Making, and Wisconsin Card Sorting test., Conclusions: Results highlight a significant vulnerability of ALS female patients to develop cognitive dysfunctions peculiar to the disease, independently of bulbar onset. The explicative hypotheses of the data are focused on two interpretative lines not mutually exclusive: the role of gonadal hormones and gender-related brain asymmetry pre-existing to the disease. These findings, never reported before in the literature, can have important implications for models of ALS pathogenesis and for future clinical trial designs., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)