Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that mainly affects the motor system, resulting in progressive weakness and muscle wasting. Despite the tremendous advances in physiopathological and clinical characterization, we do not have a curative treatment yet. The progressive and fatal course of ALS makes its management particularly complex and challenging given the diversity of symptoms presenting during the disease progression. The main goal in the treatment of ALS patients is to minimize morbidity and maximize the quality of life. Currently, a series of therapeutic interventions improve the quality of life and prolong survival, including multidisciplinary care, respiratory management, and disease-modifying therapy. Within the supportive interventions, weight maintenance through nutritional and metabolic support is critical. In addition, the management of neuropsychiatric manifestations and preservation of communicative capacity before speech loss are also crucial. Lastly, early palliative care intervention is essential to optimize symptomatic management. Anticipatory guidelines to face the inevitable patient deterioration should be devised. This article updates the main therapeutic strategies used in these patients, including evolving clinical trials with promising novel therapies.

RESUMO. A Bateria de Avaliação Frontal (FAB) é um teste de rastreio que mede as funções executivas. Embora esse instrumento tenha sido validado em vários países, sua utilidade diagnóstica em uma população chilena ainda não foi estudada. Objetivos: (1) Adaptar a FAB para uma população chilena; (2) estudar as propriedades psicométricas da FAB em uma população chilena; (3) avaliar a influência sociodemográfica no desempenho da FAB em uma amostra de controles saudáveis; e (4) desenvolver dados normativos para este último grupo. Métodos: Um grupo controle saudável (n=344) e um grupo de pacientes com demência (n=156) foram avaliados com a versão chilena da FAB. Resultados: A FAB apresentou boa consistência interna (alfa de Cronbach=0,79) e validade aceitável com base na relação com outras variáveis. A análise fatorial mostrou a unidimensionalidade do instrumento. Diferenças significativas foram encontradas no valor total da FAB entre os grupos controle saudável e demência. Com a amostra pareada, o ponto de corte estabelecido foi de 13,5, que apresentou sensibilidade de 80,8% e especificidade de 90,4%. A análise de regressão mostrou que a escolaridade e a idade predisseram significativamente o desempenho da FAB no grupo saudável. Finalmente, os dados normativos são fornecidos. Conclusões: O presente estudo mostrou que a FAB é uma ferramenta útil para discriminar entre pessoas saudáveis e aquelas com demência. No entanto, mais estudos são necessários para explorar a capacidade do instrumento para caracterizar a síndrome disexecutiva em pessoas com demência na população chilena.

ABSTRACT. The Frontal Assessment Battery (FAB) is a screening test that measures executive functions. Although this instrument has been validated in several countries, its diagnostic utility in a Chilean population has not been studied yet. Objectives: This study aimed to (1) adapt FAB in a Chilean population; (2) study the psychometric properties of the FAB in a Chilean population; (3) assess the sociodemographic influence in the performance of the FAB in a sample of healthy controls (HC); and (4) develop normative data for this healthy group. Methods: A HC (n=344) and a group of patients with dementia (n=156) were assessed with the Chilean version of FAB. Results: FAB showed good internal consistency (Cronbach's alpha=0.79) and acceptable validity based on the relationship with other variables. Factor analysis showed the unidimensionality of the instrument. Significant differences were found in the total FAB value between the HC and dementia groups. With the matched sample, the established cutoff point was 13.5, showing a sensitivity of 80.8% and a specificity of 90.4%. Regression analysis showed that education and age significantly predicted FAB performance in the healthy group. Finally, normative data are provided. Conclusions: This study shows that FAB is a useful tool to discriminate between healthy people and people with dementia. However, further studies are needed to explore the capacity of the instrument to characterize the dysexecutive syndrome in people with dementia in the Chilean population.

RESUMO O Questionário de Inventário Neuropsiquiátrico (NPI-Q) é um instrumento baseado em informantes que mede a presença e a gravidade de 12 Sintomas Neuropsiquiátricos (NPS) em pacientes com demência, bem como o sofrimento do informante. Objetivo: Avaliar as propriedades psicométricas do NPI-Q e a prevalência de NPS em pacientes com doença de Alzheimer (DA). Métodos: Foram avaliados 53 pacientes com DA. Eles foram divididos em dois grupos diferentes: AD leve (n=26) e AD moderado (n=27). A validade convergente foi estimada correlacionando os resultados do NPI-Q com os escores do Inventário Neuropsiquiátrico (NPI) e um teste de eficiência cognitiva global (Addenbrooke's Cognitive Examination - Revised - ACE-R). A confiabilidade do NPI-Q foi analisada pelo cálculo da sua consistência interna. A prevalência de NPS foi estimada com NPI e NPI-Q. Resultados: Foram observadas correlações positivas e significativas entre NPI-Q, NPI e ACE-R (r=0,730; p<0,01 e 0>315; p<0>05). O instrumento apresentou um nível adequado de confiabilidade (alfa de Cronbach=0J83). Os NPS mais prevalentes foram apatia/indiferença (62,3%) e disforia/depressão (58,5%). Conclusão: O NPI-Q apresenta indicadores de validade e confiabilidade aceitáveis em pacientes com DA, o que indica que é um instrumento adequado para a avaliação rotineira de NPS na prática clínica.

ABSTRACT The Neuropsychiatric Inventory Questionnaire (NPI-Q) is an informant-based instrument that measures the presence and severity of 12 Neuropsychiatric Symptoms (NPS) in patients with dementia, as well as informant distress. Objective: To measure the psychometric properties of the NPI-Q and the prevalence of NPS in patients with Alzheimer's disease (AD) in Chile. Methods: 53 patients with AD were assessed. Subjects were divided into two different groups: mild AD (n=26) and moderate AD (n=27). Convergent validity was estimated by correlating the outcomes of the NPI-Q with Neuropsychiatric Inventory (NPI) scores and with a global cognitive efficiency test (Addenbrooke's Cognitive Examination - Revised - ACE-R). Reliability of the NPI-Q was analysed by calculating its internal consistency. Prevalence of NPS was estimated with both the NPI and NPI-Q. Results: Positive and significant correlations were observed between the NPI-Q, the NPI, and the ACE-R (r=0.730; p<0.01 and 0.315; p<0.05 respectively). The instrument displayed an adequate level of reliability (Cronbach's alpha=0.783). The most prevalent NPS were apathy/indifference (62.3%) and dysphoria/depression (58.5%). Conclusion: The NPI-Q exhibited acceptable validity and reliability indicators for patients with AD in Chile, indicating that it is a suitable instrument for the routine assessment of NPS in clinical practice.

Recent genetic and neuropathologic advances support the concept that frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are overlapping multisystem disorders. While 10-15% of ALS patients fulfil criteria for FTD, features of motor neuron disease appear in approximately 15% of FTD patients, during the evolution of the disease. This overlap has been reinforced by the discovery of Transactive Response DNA Binding Protein 43 kDa (TDP43) inclusions as the main neuropathologic finding in the majority of ALS cases and almost a half of FTD cases. Also, an expansion in the intron of C9ORF72 (chromosome 9p21) has been identified in families affected by ALS, ALS-FTD and FTD. This review provides an update on the recent genetic and neuropathologic findings of ALS and FTD and a characterization of their clinical presentation forms, based on the current diagnostic criteria. Finally it underscores the importance of having a national registry of patients with ALS and FTD, to provide an earlier diagnosis and a multidisciplinary care.