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

Zou, Zhang‐Yu; Zhou, Zewei; Hu, Chun; Liu, Chang Yun; He, Rao Li; Huang, Hua Pin

doi:10.1136/jnnp-2016-315018

Cited by 396 publications

(353 citation statements)

References 42 publications

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“…Initially, all patients were screened for mutations in the most frequently mutated ALS genes C9orf72 and SOD1 13. Furthermore, some patients with ALS-associated mutations in other more rare genes were identified in previous studies 14–20.…”

Section: Methodsmentioning

confidence: 99%

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Müller

Brenner

Weydt

et al. 2018

J Neurol Neurosurg Psychiatry

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Section: Methodsmentioning

confidence: 99%

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Müller

Brenner

Weydt

et al. 2018

J Neurol Neurosurg Psychiatry

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“…Of 30+ Mendelian inherited genes associated with ALS,4 the most important of these include the C9orf72 repeat expansion, accounting for 6%–10% of all cases,5 and variants in SOD1 , TDP43 and FUS ,6 although the relative frequencies of these differ across European populations. By contrast, variants in OPTN are common in Asia but rare in European cohorts 7 8.…”

Section: Introductionmentioning

confidence: 99%

“…By contrast, variants in OPTN are common in Asia but rare in European cohorts 7 8. Furthermore, studies in Asian-Pacific countries, where SOD1 and FUS mutations are relatively common and the C9orf72 repeat expansion is rare,6 have reported longer survival periods than in most Western populations,9 not accounted for by differences in clinical care alone 9…”

Section: Introductionmentioning

confidence: 99%

Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations

Ryan

Vaillant

McLaughlin

et al. 2019

J Neurol Neurosurg Psychiatry

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ObjectivesThis study compares the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) within three clinic-based populations from Cuba, Uruguay and Ireland and determines the impact of known ALS-associated genetic variants on phenotypic manifestations within the Cuban population.MethodsDemographic and clinical information was collected on 115 Cuban, 220 Uruguayan and 1038 Irish patients with ALS attending national specialist clinics through 1996–2017. All Cuban patients and 676 Irish patients underwent next-generation DNA sequencing and were screened for the pathogenic C9orf72 repeat expansion.ResultsThe mean age of onset was younger in the Cuban (53.0 years, 95% CI 50.4 to 55.6) and Uruguayan (58.2 years, 95% CI 56.5 to 60.0) populations compared with the Irish population (61.6 years, 95% CI 60.9 to 62.4). No differences in survival between populations were observed. 1.7 % (95% CI 0.6 to 4.1) of Cubans with ALS carried the C9orf72 repeat expansion compared with 9.9% (95% CI 7.8 to 12.0) of Irish patients with ALS (p=0.004). Other known variants identified in the Cuban population included ANG (one patient), CHCHD10 (one patient) and DCTN1 (three patients).Conclusions and relevanceThis study is the first to describe the clinical characteristics of ALS in Cuban and Uruguayan populations and report differences between the Cuban and Irish genetic signature in terms of known ALS-associated genetic variants. These novel clinical and genetic data add to our understanding of ALS across different and understudied populations.

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“…In their JNNP manuscript, Zou et al 3 very elegantly describe the genetic epidemiology of sporadic and ‘familial’ ALS, applying a clear definition for familial versus sporadic disease 4. Using guidelines for meta-analyses and systematic reviews, the authors have screened over 6000 articles dealing with mutation frequencies in the ‘big four’ in ALS: C9orf72 , SOD1 , TARDBP and FUS .…”

mentioning

confidence: 99%