Amyotrophic lateral sclerosis spatial epidemiology in the Mount Etna region, Italy

Boumédiène, Farid; Vasta, Rosario; Rascunà, Cristina; Fermo, Salvatore Lo; Volanti, Paolo; Marziolo, R.; Patti, Francesco; Ferrante, Margherita; Preux, Pierre‐Marie; Marin, Benoît; Giammanco, Salvatore; Zappia, Mario

doi:10.1111/ene.14011

Cited by 7 publications

(2 citation statements)

References 8 publications

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“…In terms of geographical distribution, incidence is higher in populations of European than Asian origin [5]. An increase in ALS incidence has been reported in recent decades [6], in Italy as well [7][8][9][10][11]. Despite progress in assessing the role of genetic factors [12], the etiology of ALS remains largely unknown.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

Filippini

Fiore

Tesauro

et al. 2020

IJERPH

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Background: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease of the motor neurons. The etiology of ALS remains largely unknown, particularly with reference to the potential environmental determinants. Methods: We performed a population-based case-control study in four provinces from both Northern and Southern Italy in order to assess non-genetic ALS risk factors by collecting through tailored questionnaires information about clinical and lifestyle factors. We estimated ALS risk by calculating odds ratio (OR) with its 95% confidence interval (CI) using unconditional logistic regression models adjusted for sex, age and educational attainment. Results: We recruited 230 participants (95 cases and 135 controls). We found a possible positive association of ALS risk with trauma, particularly head trauma (OR = 2.61, 95% CI 1.19–5.72), electric shock (OR = 2.09, 95% CI 0.62–7.06), and some sports, although at a competitive level only. In addition, our results suggest an increased risk for subjects reporting use of private wells for drinking water (OR = 1.38, 95% CI 0.73–2.27) and for use of herbicides during gardening (OR = 1.95, 95% CI 0.88–2.27). Conversely, there was a suggestion of an inverse association with overall fish consumption (OR = 0.27, 95% CI 0.12–0.60), but with no dose-response relation. Consumption of some dietary supplements, namely those containing amino acids and, in the Southern Italy population, vitamins and minerals such as selenium, seemed associated with a statistically imprecise increased risk. Conclusions: Our results suggest a potential etiologic role a number of clinical and lifestyle factors with ALS risk. However, caution is needed due to some study limitations. These include the small sample size and the low number of exposed subjects, which affect statistical precision of risk estimates, the potential for exposure misclassification, and the uncertainties about mechanisms underpinning the possible association between these factors and disease risk.

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Section: Introductionmentioning

confidence: 99%

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

Filippini

Fiore

Tesauro

et al. 2020

IJERPH

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“…This may be relevant to the spatio-temporal and spatial high-incidence clusters of sALS on the southeastern flank of Mt. Etna in Sicily that have been linked to a possible etiologic role for metals in volcanic ash ( Nicoletti et al, 2016 ; Boumediene et al, 2019 ). Importantly, fungi are able to accumulate metals from contaminated soils and even have a role in soil bioremediation ( Spencer and Palmer, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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The identity and role of environmental factors in the etiology of sporadic amyotrophic lateral sclerosis (sALS) is poorly understood outside of three former high-incidence foci of Western Pacific ALS and a hotspot of sALS in the French Alps. In both instances, there is a strong association with exposure to DNA-damaging (genotoxic) chemicals years or decades prior to clinical onset of motor neuron disease. In light of this recent understanding, we discuss published geographic clusters of ALS, conjugal cases, single-affected twins, and young-onset cases in relation to their demographic, geographic and environmental associations but also whether, in theory, there was the possibility of exposure to genotoxic chemicals of natural or synthetic origin. Special opportunities to test for such exposures in sALS exist in southeast France, northwest Italy, Finland, the U.S. East North Central States, and in the U.S. Air Force and Space Force. Given the degree and timing of exposure to an environmental trigger of ALS may be related to the age at which the disease is expressed, research should focus on the lifetime exposome (from conception to clinical onset) of young sALS cases. Multidisciplinary research of this type may lead to the identification of ALS causation, mechanism, and primary prevention, as well as to early detection of impending ALS and pre-clinical treatment to slow development of this fatal neurological disease.

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Presymptomatic geographical distribution of ALS patients suggests the involvement of environmental factors in the disease pathogenesis

Vasta,

Callegaro,

Sgambetterra

et al. 2023

J Neurol

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Background Given that the pathogenetic process of ALS begins many years prior to its clinical onset, examining patients’ residential histories may offer insights on the disease risk factors. Here, we analyzed the spatial distribution of a large ALS cohort in the 50 years preceding the disease onset. Methods Data from the PARALS register were used. A spatial cluster analysis was performed at the time of disease onset and at 1-year intervals up to 50 years prior to that. Results A total of 1124 patients were included. The analysis revealed a higher-incidence cluster in a large area (435,000 inhabitants) west of Turin. From 9 to 2 years before their onset, 105 cases were expected and 150 were observed, resulting in a relative risk of 1.49 (P = 0.04). We also found a surprising high number of patients pairs (51) and trios (3) who lived in the same dwelling while not being related. Noticeably, these occurrences were not observed in large dwellings as we would have expected. The probability of this occurring in smaller buildings only by chance was very low (P = 0.01 and P = 0.04 for pairs and trios, respectively). Conclusions We identified a higher-incidence ALS cluster in the years preceding the disease onset. The cluster area being densely populated, many exposures could have contributed to the high incidence ALS cluster, while we could not find a shared exposure among the dwellings where multiple patients had lived. However, these findings support that exogenous factors are likely involved in the ALS pathogenesis.

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Amyotrophic lateral sclerosis spatial epidemiology in the Mount Etna region, Italy

Cited by 7 publications

References 8 publications

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

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

Presymptomatic geographical distribution of ALS patients suggests the involvement of environmental factors in the disease pathogenesis

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