Personalized Prevention in Mercury-Induced Amyotrophic Lateral Sclerosis: A Case Report

Nicola Magnavita, Mario Sabatelli, Francesco Chirico, Egeria Scoditti

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

1 Citazioni (Scopus)


Chronic exposure to low levels of mercury is involved in the development of motor neuron diseases (MND). Genetic alterations may have a crucial role in the onset and progression. We presented a case of a TANK-binding kinase 1 (TBK1)-mutated 54-year-old male worker who developed a MND due to chronic mercury exposure at work. He was employed in a chlor-alkali plant in Central Italy. After two years of employment he had acute mercury intoxication with suggestive neurological symptoms and a high urinary level of the metal. Through years, many episodes of intoxication occurred, but he continued to perform the same job and be exposed to mercury. After yet another episode of intoxication in 2013, he showed fasciculations of the upper limbs and trunk, and electromyographic activity patterns were consistent with amyotrophic lateral sclerosis (ALS). In 2016, a genetic test revealed a mutation of TBK1, an ALS-related gene. This case highlights the important role of genetics in personalized occupational medicine. Occupational physicians should use genetic tests to identify conditions of individual susceptibility in workers with documented frequent episodes of mercury intoxication recorded during health surveillance programs to customize prevention measures in the workplace and act before damage appears.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
Numero di pagine9
Stato di pubblicazionePubblicato - 2020


  • chlor-alkali plant
  • elemental mercury
  • factory worker
  • genetic susceptibility
  • genetic test
  • mercury toxicity
  • motor neuron disease
  • occupational neurotoxicity
  • personalized medicine


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