Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.

BACKGROUND: Previous studies suggest a link between CAG repeat number in the HTT gene and non-Huntington neurodegenerative diseases. OBJECTIVE: The aim is to analyze whether expanded HTT CAG alleles and/or their size are associated with the risk for developing α-synucleinopathies or their behavior as modulators of the phenotype. METHODS: We genotyped the HTT gene CAG repeat number and APOE-Ɛ isoforms in a case-control series including patients with either clinical or neuropathological diagnosis of α-synucleinopathy. RESULTS: We identified three Parkinson's disease (PD) patients (0.30%) and two healthy controls (0.19%) carrying low-penetrance HTT repeat expansions whereas none of the dementia with Lewy bodies (DLB) or multisystem atrophy (MSA) patients carried pathogenic HTT expansions. In addition, a clear increase in the number of HTT CAG repeats was found among DLB and PD groups influenced by the male gender and also by the APOE4 allele among DLB patients. HTT intermediate alleles' (IAs) distribution frequency increased in the MSA group compared with controls (8.8% vs. 3.9%, respectively). These differences were indeed statistically significant in the MSA group with neuropathological confirmation. Two MSA HTT CAG IAs carriers with 32 HTT CAG repeats showed isolated polyQ inclusions in pons and basal nuclei, which are two critical structures in the neurodegeneration of MSA. CONCLUSIONS: Our results point to a link between HTT CAG number, HTT IAs, and expanded HTT CAG repeats with other non-HD brain pathology and support the hypothesis that they can share common neurodegenerative pathways. © 2022 International Parkinson and Movement Disorder Society.

Estudo comparativo das alterações na aptidão cardiovascular em idosas praticantes e não-praticantes de caminhada em Alvarenga, MG / Un estudio comparativo de las alteraciones de la aptitud cardiovascular en mujeres envejecidas que practican ejercicios de caminada en Alvarenga, MG / A comparative study of the alterations of cardiovascular aptitude in old aged women practicing walking exercises in Alvarenga, MG

O presente estudo analisou as alterações na aptidão cardiovascular em idosas praticantes de caminhada em Alvarenga, MG. Foram pesquisadas dez idosas sedentárias com idade entre 60 e 70 anos, divididas em dois grupos, sendo: Controle e experimental, cada grupo contendo 5 integrantes, sendo avaliadas através de uma bateria de testes, propostos por Fernandes Filho (2003). Seguiu-se o treinamento com intervenção apenas no grupo experimental, consistindo de um programa de caminhada em 10 semanas. Avaliando os parâmetros cardiovasculares, verificou-se através de pré e pós-teste que foram alcançados resultados estatisticamente significativos para o grupo experimental quando comparado ao grupo controle, destacando-se: Aumento do VO2 máximo, diminuição da pressão arterial e freqüência cardíaca em repouso, ficando então evidenciado que a caminhada promove alterações benéficas na aptidão cardiovascular, em idosas praticante de caminhada. PALAVRAS-CHAVE: Caminhada. Mulheres. Envelhecimento.

The present study analyzed the alterations in the cardiovascular aptitude in aged walking exercises practitioners in Alvarenga, MG. Research subjects were ten old aged sedentary women with ages between 60 and 70 years, divided in two groups: a control and a research group. Each group had 5 members, and they were evaluated through a battery of tests proposed by Fernandes Filho (2003). Training with intervention was followed only in the research group, consisting of a 10-week walking exercise program. Through evaluating cardiovascular parameters, it was verified in pre-and post-test that statistically significant results had been reached for the research group when compared with the control group, and we identified mainly a VO2 maximo increase, and a reduction of arterial pressure and cardiac frequency at rest, a result that evidences that walking exercises promote beneficial alterations in cardiovascular aptitude in aged women practitioners. KEYWORDS: Walking exercises. Women. Old agers health.

Este estudio analiza las alteraciones en la aptitud cardiovascular en practicantes envejecidas de ejercicios de caminada en Alvarenga, MG. Los sujetos de la investigación fueran diez mujeres envejecidas sedentarias con edades entre los 60 y los 70 años, divididas en dos grupos: un grupo control y un de investigación. Cada grupo tenía 5 miembros, y se los evaluaron a través de una batería de pruebas propuestas por Fernandes Filho (2003). El entrenamiento con intervención fue seguido solamente en el grupo de investigación, consistiendo en un programa de diez semanas de ejercicios de caminada. Con la evaluación de parámetros cardiovasculares, fue verificado antes e después de la prueba que resultados estadísticamente significativos han sido alcanzados para el grupo de investigación en comparación con el grupo de control, e identificamos principalmente un aumento del VO2 máximo, y una reducción de la presión arterial y de la frecuencia cardiaca en reposo, un resultado que evidencia que los ejercicios de caminada promueven alteraciones beneficiosas en la aptitud cardiovascular en mujeres envejecidos que los practican. PALABRAS LLAVE: Caminada. Mujeres. Envejecimiento.