Conjugal amyotrophic lateral sclerosis in Brazil

Abstract

-The origin of amyotrophic lateral sclerosis (ALS) remains unknown, although it seems to be multifactorial. The role of environmental factors has been frequently investigated and suspicion of its influence can be obtained when clusters of a rare disease are described. Objective: To describe conjugal cases of ALS in Brazil. Method: We describe 2 couples in which both spouses were affected by ALS. Both couples had lived in southeast Brazil and were married for at least 20 years. Results: There was a great variability in clinical presentation of ALS in our patients. In both couples the interval between disease onsets was short. No precise environmental factors could be identified at the origin of these conjugal cases. Conclusion: The occurrence of ALS in couples living in the same area may be epidemiologically important, but we cannot exclude that cases may be due to a chance association.Key WordS: amyotrophic lateral sclerosis, conjugal, environmental factors, etiology.esclerose lateral amiotrófica em casais no Brasil resumo -A origem da esclerose lateral amiotrófica (eLA) permanece desconhecida. o papel de fatores ambientais tem sido freqüentemente investigado e a suspeição de sua influência pode ser obtida quando são descritas salvas de casos de uma doença rara. Objetivo: descrever casos de eLA em casais no Brasil. Método: Apresentamos dois casais em que ambos os cônjuges forma acometidos pela eLA. Ambos os casais residiram na região sudeste do Brasil e estiveram casados por pelo menos 20 anos. Resultados: Houve grande variabilidade na apresentação clínica da eLA em nossos pacientes. em ambos os casais, o intervalo de início da doença foi curto. Nenhum fator ambiental foi identificado na etiologia destes casos conjugais. Conclusão: A ocorrência de eLA em casais que habitam a mesma região pode ser epidemiologicamente importante, mas não podemos excluir que estes casos tenham sido mera associação.PALAvrAS-cHAve: esclerose lateral amiotrófica, casais, fatores ambientais, etiologia.

Early-onset, conjugal, twin-discordant, and clusters of sporadic ALS: Pathway to discovery of etiology via lifetime exposome research

“…Conjugal cases are important because of the possibility of identifying a history of common environmental exposures with potential relevance to etiology ( Godeiro-Junior et al, 2009 ), as demonstrated by the association of cycad toxins with Western Pacific ALS, especially on Guam ( Spencer et al, 2020 ). Outside of Guam, where conjugal cases of ALS were reported in 1975 ( Reed et al, 1975 ), diagnoses of ALS in couples is rare ( Dewitt et al, 2012 ).…”

“…Through 2021, there were reports of at least 20 conjugal ALS pairs in the literature. There was an important geographical cluster of 10 pairs in southeast France ( Camu et al, 1994 ; Corcia et al, 2003 ; Lagrange et al, 2021b ), 5 pairs in Italy ( Paolino et al, 1984 ; Poloni et al, 1997 ; Rachele et al, 1998 ; Chiò et al, 2001 ; Bersano et al, 2014 ; Vasta et al, 2018 ), 2 pairs each from Brazil ( Godeiro-Junior et al, 2009 ) and the UK ( Orrell et al, 1996 ; Fernandes et al, 2017 ), one pair each from Libya ( Maloo et al, 1989 ) and Spain ( Martínez Matos et al, 1986 ), and 4 pairs from the United States ( Chad et al, 1982 ; Cornblath et al, 1993 ; Palmer and Spencer, 2002 ). No conjugal case was shown to be consanguineous and, prior to ALS diagnosis, all pairs had lived together for at least 10 years and sometimes much longer.…”

“…Common exposures were also not explored for (a) an elderly Libyan couple who had lived together for 40 years (30 years in Benghazi) and developed ALS within 15 months of each other ( Maloo et al, 1989 ) or (b) for another conjugal ALS couple from Spain ( Martínez Matos et al, 1986 ). Another study lacking an exposure history described two couples with conjugal ALS from Brazil; one couple had lived together for 40 years, and the second for 20 years in the countryside outside Sao Paulo ( Godeiro-Junior et al, 2009 ). Near simultaneous onset of motor weakness occurred in the 7th decade of life of a couple living in Scotland; since no common environmental history was found, conjugal ALS was assumed to have occurred by chance ( Fernandes et al, 2017 ).…”