Publications by authors named "Andrew Farrugia Wismayer"
Article Synopsis
- The study examines the genetic and clinical profiles of the largest group of ALS patients from Malta, highlighting the island's unique genetic isolate status.
- Using whole-genome sequencing, researchers found that over 45% of patients had damaging genetic variants associated with ALS, primarily in less common genes like ALS2 and SETX.
- Importantly, major ALS-related genes were rarely found in Maltese patients, suggesting that Malta’s population presents a distinct genetic landscape for understanding ALS risk factors.
Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.
View Article and Find Full Text PDFOccupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta.
Amyotroph Lateral Scler Frontotemporal Degener
November 2021
Amyotrophic lateral sclerosis (ALS) is a mostly sporadic neurodegenerative disease. The role of environmental factors has been extensively investigated but associations remain controversial. Considering that a substantial proportion of adult life is spent at work, identifying occupations and work-related exposures is considered an effective way to detect factors that increase ALS risk.
View Article and Find Full Text PDFGenetic 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.
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