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Background and objectives: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of Italian ALS patients, to determine the TARDBP-associated clinical features and to look for genotype–phenotype correlation and penetrance of the mutations. Methods: A total of 1992 Italian ALS patients (193 fALS and 1799 sALS) were enrolled in this study. Sanger sequencing of TARDBP gene was performed in patients and, when available, in patients' relatives. Results: In total, 13 different rare variants were identified in 43 index cases (10 fALS and 33 sALS) with a cumulative mutational frequency of 2.2% (5.2% of fALS, 1.8% of sALS). The most prevalent variant was the p.A382T followed by the p.G294V. Cognitive impairment was detected in almost 30% of patients. While some variants, including the p.G294V and the p.G376D, were associated with restricted phenotypes, the p.A382T showed a marked clinical heterogeneity regarding age of onset, survival and association with cognitive impairment. Investigations in parents, when possible, showed that the variants were inherited from healthy carriers and never occurred de novo. Conclusions: In our cohort, TARDBP variants have a relevant frequency in Italian ALS patients and they are significantly associated with cognitive impairment. Clinical presentation is heterogeneous. Consistent genotype–phenotype correlations are limited to some mutations. A marked phenotypic variability characterizes the p.A382T variant, suggesting a multifactorial/oligogenic pathogenic mechanism.

The Personal Style of the Therapist (PST) is a multidimensional construction that is present in every therapeutic process. Aim. This research studies the differences between Italian and Chilean post-rationalist cognitive therapists. Method. A cross-sectional analysis was conducted to compare therapists in the five dimensions of EPT. For this purpose, a t-test was applied. The EPT-C questionnaire was administered to a total sample of 63 post-rational cognitive therapists of both nationalities. Results. The results revealed statistically significant differences in expressive function (p =,004). Italian therapists showed the highest values. Conclusion. In the five functions evaluated by ETP only significant differences for expressive function were found., El estilo personal del terapeuta (PST) es una construcción multidimensional que está presente en cada proceso terapéutico. Objetivo. Esta investigación estudia las diferencias entre los terapeutas cognitivos posracionalistas italianos y chilenos. Método. Se realizó un análisis transversal para comparar terapeutas en las cinco dimensiones de EPT. Para este propósito, se aplicó una prueba t. El cuestionario EPT-C se administró a una muestra total de 63 terapeutas cognitivos posracionales de ambas nacionalidades. Resultados Los resultados revelaron diferencias estadísticamente significativas en la función expresiva (p =, 004). Los terapeutas italianos mostraron los valores más altos. Conclusión. En las cinco funciones evaluadas por ETP solo se encontraron diferencias significativas para la función expresiva.