Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation

Ceroni, Mauro; Malaspina, Andrea; Poloni, Tino Emanuele; Alimonti, Dario; Rognoni, F; Habgood, James; Imbesi, F.; Antonelli, Paolo; Alfonsi, Enrico; Curti, Daniela; Debelleroche, J

doi:10.1212/wnl.53.5.1064

Cited by 47 publications

(25 citation statements)

References 32 publications

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“…In previous studies, some small clusters have been explained by common ancestry [20,21] . A simple genetic explanation is unlikely in the context of this study, given the genetic diversity of the population in south-east England and the size of the clusters observed.…”

Section: Discussionmentioning

confidence: 94%

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study

et al. 2008

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Background: Amyotrophic lateral sclerosis (ALS) is a degenerative disease of motor neurons that causes progressive paralysis and eventually results in death from respiratory failure. Environmental factors that trigger ALS might result in a pattern of geographical clustering of cases. We tested this hypothesis using the South-East England ALS population register, which covers south-east London, Kent and parts of neighbouring counties. Methods: The register’s catchment area was divided into postcode districts and sectors. The expected rates of ALS (adjusted for age and sex) were compared with the observed rates using a standardised residuals method and the SaTScan programme. Results: There were 406 cases of ALS identified in the catchment area during the study period. Four of the 126 postcode districts, all in Greater London, had residuals >2.5 SDs from the mean. Similarly, there were 15 postcode sectors (out of 420) that had residuals >1.96 SDs from the mean. Nine of these were in Greater London. SaTScan identified an area that had a 5.61-km radius in which the relative risk of ALS was 1.70 (p = 0.012). This area overlapped with the postcode districts and some of the sectors identified using the residuals method. Conclusions: These findings suggest an excess of ALS cases in some postcode districts in south-east England.

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Section: Discussionmentioning

confidence: 94%

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study

et al. 2008

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“…These results are consistent with previous fi ndings reporting a northwest (high) to southeast (low) gradient in ALS incidence rates in the United States based on state of birth [30] . Regional differences in ALS rates have also been noted in countries outside the United States [31][32][33] and have been attributed primarily to environmental or genetic factors. Whether similar factors account for the regional differences noted in the United States is unclear.…”

Section: Discussionmentioning

confidence: 99%

Amyotrophic Lateral Sclerosis Mortality in the United States, 1979–2001

Sejvar

Holman²,

Bresee³

et al. 2005

Neuroepidemiology

101

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The etiology of nonfamilial amyotrophic lateral sclerosis (ALS) remains unknown. Earlier studies have suggested an increase in the incidence of ALS over time. We performed a retrospective analysis of ALS-associated death rates and trends in the United States for 1979–2001 using death records from the national multiple cause-of-death database. The US average annual age-adjusted ALS death rate was 1.84 per 100,000 persons for 1979 through 1998. Most deaths were among adults ≧65 years of age and the median age at death was 67 years. A small overall increase in the death rate was observed primarily between 1979 and 1983, with a subsequent plateau. This slight change in the overall rate reflected apparent increases in the rates among those persons ≧65 years of age, particularly women, and persons in the 20- to 49-year-old age group. The ALS-associated death rate appeared to differ by geographic area, with a higher occurrence among most northern states. Our findings suggest that the epidemiology of ALS-associated deaths in the United States demonstrated small increases in the overall age-adjusted death rate and in the death rates among elderly women and adults 20–49 years of age. Subpopulations at higher risk for ALS were males, whites, persons ≧65 years of age, and residents of northern states. This study provides information for further studies to examine the epidemiology and risk factors associated with ALS.

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“…If, in future, one is found to persist, genetic risk factors should be explored before postulating an environmental cause. An apparent cluster in one area in central Italy was associated with the L84F SOD1 gene mutation [64].…”

Section: Community Clustersmentioning

confidence: 99%

Environmental Risk Factors for Amyotrophic Lateral Sclerosis

Armon

2001

Neuroepidemiology

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In order to evaluate reported associations of environmental risk factors with amyotrophic lateral sclerosis (ALS), consideration is given first to robust clinical and epidemiologic observations. These are observations which have persisted in time, have been replicated consistently and likely reflect the reality of the disease. Sporadic, familial and Western Pacific ALS are considered. In contrast, other associations appear to have emerged due to chance, sometimes compounded by faulty study design, and have dissipated once greater attention was given to methodological rigor. Current data suggest that there are no robust environmental risk factors for sporadic ALS.

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Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation

Abstract: The ALS patients carrying the L84F mutation derive from a common ancestor. This mutation is responsible for ALS clustering in the area. The L84F mutation does not modify SOD1-specific activity.

Cited by 47 publications

References 32 publications

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study

Amyotrophic Lateral Sclerosis Mortality in the United States, 1979–2001

Environmental Risk Factors for Amyotrophic Lateral Sclerosis

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