scholarly journals Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants

2021 ◽  
pp. 1-12
Author(s):  
Carolyn A. Brown ◽  
Cathy Lally ◽  
Varant Kupelian ◽  
W. Dana Flanders
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Latin America ◽  
North America ◽  
Meta Analysis ◽  
Incidence Rates ◽  
Chromosome 9 ◽  
Genetic Origin ◽  
Pooled Prevalence ◽  
Incident Cases ◽  
Lateral Sclerosis

<b><i>Introduction:</i></b> Amyotrophic lateral sclerosis (ALS) is a rare neurological disorder characterized by progressive deterioration of motor neurons. Assessment of the size/geographic distribution of the ALS population, including ALS with genetic origin, is needed to understand the burden of the disease and the need for clinical intervention and therapy. <b><i>Objectives:</i></b> The main objective of this study was to estimate the number of prevalent and incident ALS cases overall and superoxide dismutase 1 (SOD1) and chromosome 9 open reading frame 72 (C9orf72) ALS in 22 countries across Europe (Belgium, France, Germany, Ireland, Italy, Netherlands, Norway, Russia, Spain, Sweden, and UK), North America (USA and Canada), Latin America (Argentina, Brazil, Colombia, Mexico, and Uruguay), and Asia (China, Japan, South Korea, and Taiwan). <b><i>Methods:</i></b> A comprehensive literature search was conducted to identify population-based studies reporting ALS prevalence and/or incidence rates. Pooled prevalence and incidence rates were obtained using a meta-analysis approach at the country and regional geographic level. A country-level pooled estimate was used when ≥2 studies were available per country and geographic regional pooled estimates were used otherwise. The proportion of cases with a SOD1 or C9orf72 mutation among sporadic (sALS) and familial (fALS) cases were obtained from a previous systematic review and meta-analysis. <b><i>Results:</i></b> Pooled prevalence rates (per 100,000 persons) and incidence rates (per 100,000 person-years) were 6.22 and 2.31 for Europe, 5.20 and 2.35 for North America, 3.41 and 1.25 for Latin America, 3.01 and 0.93 for Asian countries excluding Japan, and 7.96 and 1.76 for Japan, respectively. Significant heterogeneity in reported incidence and prevalence was observed within and between countries/geographic regions. The estimated number of 2020 ALS cases across the 22 countries is 121,028 prevalent and 41,128 incident cases. The total estimated number of prevalent SOD1 cases is 2,876 cases, of which, 1,342 (47%) were fALS and 1,534 (53%) were sALS, and the number of incident SOD1 cases is 946 (434 [46%] fALS and 512 [54%] sALS). The total estimated number of prevalent C9orf72 cases is 4,545 (1,198 [26%] fALS, 3,347 [74%] sALS), and the number of incident C9orf72 cases is 1,706 (450 [26%] fALS and 1,256 [74%] sALS). <b><i>Discussion:</i></b> The estimated number of patients with SOD1 and C9orf72 ALS suggests that although the proportions of SOD1 and C9orf72 are higher among those with fALS, the majority of SOD1 and C9orf72 ALS cases may be found among those with sALS (about 53 and 74%, respectively). These results suggest that classification of fALS based on reported family history does not capture the full picture of ALS of genetic origin.

scholarly journals Five-Year Incidence of Amyotrophic Lateral Sclerosis in British Columbia (2010-2015)

2016 ◽  
Vol 43 (6) ◽  
pp. 791-795
Author(s):  
Riley Golby ◽  
Brigitte Poirier ◽  
Marife Fabros ◽  
Jacquelyn J. Cragg ◽  
Masoud Yousefi ◽  
...  
Keyword(s):  
British Columbia ◽  
Amyotrophic Lateral Sclerosis ◽  
Incidence Rates ◽  
International Studies ◽  
For Profit ◽  
Capture Recapture ◽  
Canadian Provinces ◽  
Demographic Patterns ◽  
Incident Cases ◽  
Lateral Sclerosis

AbstractBackground: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative neurological disease with significant effects on quality of life. International studies continue to provide consistent incidence values, though complete case ascertainment remains a challenge. The Canadian population has been understudied, and there are currently no quantitative data on the incidence of ALS in British Columbia (BC). The objectives of this study were to determine the five-year incidence rates of ALS in BC and to characterize the demographic patterns of the disease. Methods: The capture–recapture method was employed to estimate ALS incidence over a five-year period (2010-2015). Two sources were used to identify ALS cases: one database from an ALS medical centre and another from a not-for-profit ALS organization. Results: During this time period, there were 690 incident cases within the two sources. The capture–recapture method estimated 57 unobserved cases, corresponding to a crude five-year incidence rate of 3.29 cases per 100,000 (CI95%=3.05-3.53). The mean age of diagnosis was 64.6 (CI95%=59.7-69.4), with 63.5 (CI95%=56.9-70.1) for men and 65.7 (CI95%=58.6-72.7) for women. There was a slight male preponderance in incidence, with a 1.05:1 ratio to females. Peak numbers in incidence occurred between the ages of 70 and 79. Conclusions: The incidence of ALS in BC was found to be consistent with international findings though nominally higher than that in other Canadian provinces to date.

Statins and risk of amyotrophic lateral sclerosis: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Fardin Nabizadeh ◽  
Mohammad Balabandian ◽  
Amir Mohammad Sharafi ◽  
Ali Ghaderi ◽  
Mohammad Reza Rostami ◽  
...  
Keyword(s):  
Systematic Review ◽  
Amyotrophic Lateral Sclerosis ◽  
Meta Analysis ◽  
Lateral Sclerosis

Time-trend evolution and determinants of sex ratio in Amyotrophic Lateral Sclerosis: a dose–response meta-analysis

2021 ◽  
Author(s):  
Andrea Fontana ◽  
Benoit Marin ◽  
Jaime Luna ◽  
Ettore Beghi ◽  
Giancarlo Logroscino ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Sex Ratio ◽  
Dose Response ◽  
Time Trend ◽  
Meta Analysis ◽  
Lateral Sclerosis

3 Estimating the Burden of Dementia in Latin America and the Caribbean: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 50 (Supplement_1) ◽  
pp. i1-i6
Author(s):  
Y Xiang ◽  
K Chan ◽  
I Rudan
Keyword(s):  
Latin America ◽  
Disease Burden ◽  
Meta Analysis ◽  
Public Health Issue ◽  
Middle Income ◽  
Dementia Prevalence ◽  
Pooled Prevalence ◽  
The Future ◽  
The Caribbean ◽  
Policy And Planning

Abstract Background and Objectives Rapid increase in life expectancy has resulted in an increase in the global burden of dementia that is expected to become a leading cause of morbidity in the future. Low- and middle-income countries are expected to bear an increasing majority of the burden, but lack data for accurate burden estimates that are key for informing policy and planning. Bayesian methods have recently gained recognition over traditional frequentist approaches for modelling disease burden for their superiority in dealing with severely limited data. This study provides updated estimates of dementia prevalence in Latin America and the Caribbean (LAC) for the years 2015, 2020 and 2030. Given the paucity of data, estimates were developed using a Bayesian methodology and confirmed by the traditional frequentist approach, with the aim of providing methodological insights for future disease burden estimates. Methods A comprehensive systematic literature search was conducted to identify all relevant primary studies published between the years 2010–2018. The quality of the included studies was critically assessed. A random-effects model (REM) and a Bayesian normal-normal hierarchical model (NNHM) were used to obtain the pooled prevalence estimate of dementia for people aged 60 and above. The latter model was also developed to estimate age-specific dementia prevalence. Using UN population estimates, total and age-specific projections of the burden of dementia were calculated. Results The prevalence of dementia in LAC was found to be 14% (10–21%) in those above age 60 based on REM, and 8% (5–11.5%) based on NNHM. The prevalence increased from 2% (1–4%) in people aged 60–69 to 29% (20–37%) in people above the age of 80. The number of people living with dementia in LAC in 2015 was estimated at 5.68 million, with future projections of 6.86 million in 2020 and 9.94 million in 2030. Conclusions The findings of this review found that burden of dementia in LAC is substantial and continues to rapidly grow. The projected rise in dementia cases in the future should prompt urgent governmental response to address this growing public health issue. We were also able to demonstrate that given the overall paucity of data, a Bayesian approach was superior for estimating disease prevalence and burden.

NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis

2021 ◽  
Author(s):  
Luqing Yao ◽  
Xiaoyan He ◽  
Baolong Cui ◽  
Fang Zhao ◽  
Chang Zhou
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Meta Analysis ◽  
Lateral Sclerosis

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

2017 ◽  
Vol 88 (7) ◽  
pp. 540-549 ◽  
Author(s):  
Zhang-Yu Zou ◽  
Zhi-Rui Zhou ◽  
Chun-Hui Che ◽  
Chang-Yun Liu ◽  
Rao-Li He ◽  
...  
Keyword(s):  
Systematic Review ◽  
Amyotrophic Lateral Sclerosis ◽  
Genetic Epidemiology ◽  
Meta Analysis ◽  
Lateral Sclerosis

scholarly journals The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis

2018 ◽  
Vol 19 (10) ◽  
pp. 3137 ◽  
Author(s):  
Anna Konopka ◽  
Julie Atkin
Keyword(s):  
Dna Damage ◽  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Repeat Expansion ◽  
Chromosome 9 ◽  
Gene Encoding ◽  
C9orf72 Repeat Expansion ◽  
Reading Frame ◽  
Early Onset Dementia ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressing neurodegenerative disease affecting motor neurons, and frontotemporal dementia (FTD) is a behavioural disorder resulting in early-onset dementia. Hexanucleotide (G4C2) repeat expansions in the gene encoding chromosome 9 open reading frame 72 (C9orf72) are the major cause of familial forms of both ALS (~40%) and FTD (~20%) worldwide. The C9orf72 repeat expansion is known to form abnormal nuclei acid structures, such as hairpins, G-quadruplexes, and R-loops, which are increasingly associated with human diseases involving microsatellite repeats. These configurations form during normal cellular processes, but if they persist they also damage DNA, and hence are a serious threat to genome integrity. It is unclear how the repeat expansion in C9orf72 causes ALS, but recent evidence implicates DNA damage in neurodegeneration. This may arise from abnormal nucleic acid structures, the greatly expanded C9orf72 RNA, or by repeat-associated non-ATG (RAN) translation, which generates toxic dipeptide repeat proteins. In this review, we detail recent advances implicating DNA damage in C9orf72-ALS. Furthermore, we also discuss increasing evidence that targeting these aberrant C9orf72 confirmations may have therapeutic value for ALS, thus revealing new avenues for drug discovery for this disorder.

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