Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort

Kacem, Imen; Sghaier, Ikram; Bougatef, Souha; Nasri, Amina; Gargouri, Amina; Ajroud‐Driss, Senda; Gouider, Riadh

doi:10.1080/21678421.2019.1704012

Cited by 20 publications

(14 citation statements)

References 49 publications

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“…Although these differences did not reach statistical significance, there was a trend towards a lower frequency of bulbar-onset disease in the AA group, compared to the EA group. While the onset region in the EA group appears to follow the same pattern observed in studies from Europe, North America and China, the pattern in the AA group is congruent with other data from Africa [9,[34][35][36][37][38]. This finding requires further investigation in studies with larger numbers of participants of African ancestry.…”

Section: Discussionsupporting

confidence: 86%

Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study

Henning

Heckmann

Naidu

et al. 2020

Euro J of Neurology

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Background and purpose: Little is known about the epidemiological features of amyotrophic lateral sclerosis (ALS) in sub-Saharan Africa, and data from the region are limited to clinical series or case reports. The aim of the study was to investigate the incidence rate and presentation of ALS in an ethnically diverse region of South Africa. Methods: We performed a 4-year prospective incidence study in the Western Cape Province of South Africa between 1 July 2014 and 30 June 2018, and used a two-source capture-recapture method for case ascertainment. Age-and sex-adjusted incidence rates (ASAIRs) were calculated using the 2010 US population as the reference. Results: A total of 203 incident cases were identified over the study period, resulting in a crude incidence rate (IR) of 1.09 [95% confidence interval (CI) 0.94-1.24] per 100 000 person-years in the at-risk population (aged >15 years). Capture-recapture analysis resulted in an estimated IR of 1.11 (95% CI 1.01-1.22) per 100 000 person-years. The ASAIR was 1.67 (95% CI 1.09-2.26) overall; 1.99 (95% CI 1.60-2.39) for men and 1.37 (95% CI 1.06-1.68) for women. When analysed separately, there was a substantial difference in ASAIRs between the different population groups, with the highest in the European ancestry group (2.62; 95% CI 2.49-2.75), the lowest in the African ancestry group (0.56, 95% CI 0.0-1.23), and an ASAIR in between these two in the mixed ancestry group (1.09, 95% CI 0.80-1.37). Conclusion: The overall incidence of ALS in the Western Cape Province of South Africa appears to be lower than in North African and Western countries, but higher than in Asian countries. As suggested by previous epidemiological studies, ALS may be less frequent in people of African ancestry.

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Section: Discussionsupporting

confidence: 86%

Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study

Henning

Heckmann

Naidu

et al. 2020

Euro J of Neurology

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“…In our work, we investigated the characteristics of Maltese ALS patients, described their genetic profile, and determined the incidence and prevalence of ALS on the Maltese islands. It is interesting that the population-specific aspects of our ALS cases overlap those reported for other neighbouring European populations, especially those in the Mediterranean including the island of Sicily [41] and the southern region of Puglia [42,43] in Italy, Tunisia [44] and Cyprus [45]. Although the male preponderance in ALS is virtually universal [46,47], it is noteworthy that in these specific populations as well as in Malta, age at disease onset is higher in males than in females.…”

Section: Discussionsupporting

confidence: 49%

Genetic analysis of ALS cases in the isolated island population of Malta

et al. 2021

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Genetic isolates are compelling tools for mapping genes of inherited disorders. The archipelago of Malta, a sovereign microstate in the south of Europe is home to a geographically and culturally isolated population. Here, we investigate the epidemiology and genetic profile of Maltese patients with amyotrophic lateral sclerosis (ALS), identified throughout a 2-year window. Cases were largely male (66.7%) with a predominant spinal onset of symptoms (70.8%). Disease onset occurred around mid-age (median age: 64 years, men; 59.5 years, female); 12.5% had familial ALS (fALS). Annual incidence rate was 2.48 (95% CI 1.59–3.68) per 100,000 person-years. Male-to-female incidence ratio was 1.93:1. Prevalence was 3.44 (95% CI 2.01–5.52) cases per 100,000 inhabitants on 31st December 2018. Whole-genome sequencing allowed us to determine rare DNA variants that change the protein-coding sequence of ALS-associated genes. Interestingly, the Maltese ALS patient cohort was found to be negative for deleterious variants in C9orf72, SOD1, TARDBP or FUS genes, which are the most commonly mutated ALS genes globally. Nonetheless, ALS-associated repeat expansions were identified in ATXN2 and NIPA1. Variants predicted to be damaging were also detected in ALS2, DAO, DCTN1, ERBB4, SETX, SCFD1 and SPG11. A total of 40% of patients with sporadic ALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene, whilst the genetic cause of two thirds of fALS cases could not be pinpointed to known ALS genes or risk loci. This warrants further studies to elucidate novel genes that cause ALS in this unique population isolate.

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“…The juvenile form of ALS corresponds to cases where the age of onset was <25 years. The classic form of ALS corresponds to all the other cases (age of onset ≥25 years) [ 14 – 16 ].…”

Section: Methodsmentioning

confidence: 99%

Sensitivity of Awaji Criteria and Revised El Escorial Criteria in the Diagnosis of Amyotrophic Lateral Sclerosis (ALS) at First Visit in a Tunisian Cohort

Ido

Kacem

Ouedraogo

et al. 2021

Neurology Research International

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Background. Amyotrophic lateral sclerosis (ALS) is a fatal disease whose diagnosis and early management can improve survival. The most used diagnostic criteria are the revised El Escorial criteria (rEEC) and Awaji criteria (AC). The comparison of their sensitivities showed contradictory results. Our study aimed to compare the sensitivities of these two criteria in the diagnosis of definite ALS, at first visit, in a Tunisian hospital cohort. Materials and Methods. This was a retrospective study including 173 patients diagnosed with ALS at the Department of Neurology of the Razi Hospital between January 2003 and April 2018.After studying the clinical features of the disease in our study population,each patient was categorized according to the rEEC and AC based on data collected in his medical record during his first visit to our department. Then, we compared the sensitivities of these two criteria in the diagnosis of definite ALS. Results. Our Tunisian cohort was characterized by a slower disease progression. The sensitivity of the AC (69.4%) was significantly higher than that of the rEEC (40.5%) ( p < 0.001). When the clinical signs evolved for less than 6 months, the sensitivities were 61% for AC and 12% for rEEC ( p < 0.001). After 24 months of disease progression, the sensitivities were 78.2% for AC and 69.1% for rEEC ( p = 0.063). It was impossible to categorize seventeen patients by the two criteria. Conclusion. Our study demonstrated that patients in AC are more sensitive than rEEC in the early diagnosis of ALS in our Tunisian cohort. However, this superiority is gradually reduced during the evolution of the disease.

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Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort

Cited by 20 publications

References 49 publications

Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study

Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study

Genetic analysis of ALS cases in the isolated island population of Malta

Sensitivity of Awaji Criteria and Revised El Escorial Criteria in the Diagnosis of Amyotrophic Lateral Sclerosis (ALS) at First Visit in a Tunisian Cohort

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