Clinical aspects of amyotrophic lateral sclerosis in Rio de Janeiro/Brazil

Loureiro, Marli P.S.; Gress, Claudio H.; Thuler, L.C.S.; Alvarenga, Regina Maria Papais; Lima, J.A. De

doi:10.1016/j.jns.2012.01.029

Cited by 16 publications

(6 citation statements)

References 20 publications

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“…This hypothesis aligns well with the multistep model of ALS,26 where recent work has shown a reduced number of steps in patients with ALS with genetic mutations 27. Age of onset has been shown to vary between populations of different ancestries,28 with a lower age of onset of ALS observed in some South American,29 Asian30 31 and African32 populations, which may be partially attributable to lower median ages across these populations (eg, India and most African populations),19 compared with their Europe counterparts. However, examination of sex-specific life expectancies at birth and at 50 years of age published in the United Nations demographic yearbook19 at the midpoint of the study period reveals no notable differences between Cuban, Uruguayan and Irish populations (life expectancies at birth in years: [male] Cuba 75.1, Uruguay 72, Ireland 75.1; [female] Cuba 79, Uruguay 79.5, Ireland 80.3; life expectancies at 50 [years]: [male] Cuba 28.5, Uruguay 26, Ireland 27.8; [female] Cuba 31.3, Uruguay 32.3, Ireland 31.9).…”

Section: Discussionsupporting

confidence: 81%

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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Section: Discussionsupporting

confidence: 81%

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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“…Third, there was no significant difference in survival overall or when stratified by age. Several studies from Africa have suggested a better prognosis in patients of African descent (11, 14) whereas other studies, performed in other countries using different methodologies, have shown no differences (13, 15). One of those latter studies, however, did find decreased mortality rates in patients with mixed ancestry (13).…”

Section: Discussionmentioning

confidence: 98%

Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population

Kazamel

Cutter²,

Claussen

et al. 2013

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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Objective To identify the main clinical and epidemiological features of ALS in a large cohort of African American (AA) patients and compare them to Caucasian (CA) patients in a clinic-based population. Methods We retrospectively identified 207 patients who were diagnosed with ALS based on the revised El Escorial criteria (60 AA and 147 CA subjects). Patients were seen in the Neuromuscular Division at the University Medical Center. We compared epidemiological and clinical features of these two groups, focusing on age of onset and diagnosis, clinical presentation and survival. Results AA patients had a significantly younger age of disease onset (55 years v. 61 for CA, p=0.011) and were diagnosed at an earlier age (56 v. 62, p=0.012). In younger ALS patients (<45 years old), there was a significant difference in gender frequency, with females predominating in the AA population and males in the CA population (p = 0.025). In a multivariable Cox proportional hazard model, survival rates were not different between the groups. In both groups, survival significantly increased with younger age. Conclusion AA patients presented at an earlier age, but there was no difference in survival compared to CA patients. A gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients more likely to be male.

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“…Our results of a generally young age of onset of SOD1-mutant patients are in line with the multistep model of ALS [19], which proposes that the number of steps in ALS was 2 in patients with SOD1 mutations, 3 in patients carrying C9orf72 expansions, and 6 in patients without known mutations. The age of onset in the whole ALS population varies between different ethnicities : In Asia (India: 46.2 years, China:52.4 years [20]), Africa (approximately 50 years [21]), and South America (Rio de Janeiro/Brazil: 53.6 years [22], Cuba and Uruguay: 54.4 and 59.5 years [23]) age of onset is younger compared to Europe (Germany: 61.0 years [10]; Ireland: 63.0 years [23]) and North America (US: 61.5 years [24]). A systematic review [25] of ALS cohorts showed considerable differences regarding the mean ages of onset among patients carrying distinct mutations: The youngest ages of onset were found in patients with VCP (11.6 years), hnRNPA1 (33 years), ALS2 (37.4 years), and FUS (41.8 years) mutations, the oldest in Fig.…”

Section: Discussionmentioning

confidence: 99%

A Natural History Comparison of SOD1-mutant Patients with Amyotrophic Lateral Sclerosis between Chinese and German Populations

Tang

Dorst

Chen

et al. 2021

Preprint

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Background: The gene coding the Cu/Zn superoxide dismutase (SOD1) was the first-identified causative gene of amyotrophic lateral sclerosis (ALS), and the second most common genetic cause for ALS worldwide. The promising therapeutic approaches targeting SOD1 mutations are on the road. The purpose of the present study was to compare the mutational and clinical features of Chinese and German patients with ALS carrying mutations in SOD1 gene, which will facilitate the strategy and design of SOD1-targeted trials. Methods: Demographic and clinical characteristics were collected from two longitudinal cohorts in China and Germany. Chinese and German patients carrying SOD1 mutations were compared with regard to mutational distribution, age of onset, site of onset, body mass index (BMI) at diagnosis, diagnostic delay, progression rate, and survival. Results: A total of 66 Chinese and 84 German patients with 69 distinct SOD1 mutations were identified. The most common mutation in both populations was p.His47Arg. It was found in 8 Chinese and 2 German patients and consistently showed a slow progression of disease in both countries. Across all mutations, Chinese patients showed a younger age of onset (43.9 vs 49.9 years, p=0.002), a higher proportion of young-onset cases (62.5% vs 30.7%, p<0.001) and a lower BMI at diagnosis (22.8 vs 26.0, p<0.001) compared to German patients. Although riluzole intake was less frequent in Chinese patients (28.3% vs 81.3%, p<0.001), no difference in survival between populations was observed (p=0.90). Across both cohorts, female patients had a longer diagnostic delay (15.0 vs 11.0 months, p=0.01) and a prolonged survival (248.0 vs 60.0 months, p=0.005) compared to male patients. Conclusions: Our data demonstrate the distinct mutational and clinical spectrums of SOD1-mutant patients in Asian and European populations. Clinical phenotypes seem to be primarily influenced by mutation-specific, albeit not excluding ethnicity-specific factors. Further large-scale transethnical studies are needed to clarify determinants and modifiers of SOD1 phenotypes.

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Clinical aspects of amyotrophic lateral sclerosis in Rio de Janeiro/Brazil

Cited by 16 publications

References 20 publications

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

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

Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population

A Natural History Comparison of SOD1-mutant Patients with Amyotrophic Lateral Sclerosis between Chinese and German Populations

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