Publications by authors named "Malcolm Vella"

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.
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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.

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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.

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'Painful tic convulsif' (PTC) describes the coexistence of hemifacial spasm and trigeminal neuralgia. In this report, we describe a unique presentation of bilateral PTC in a man with bilateral hemifacial spasm and trigeminal neuralgia secondary to neurovascular conflict of all four cranial nerves. Following failed medical and radiofrequency therapy, microvascular decompression of three of the four involved nerves was performed, where the offending vessels were mobilised and Teflon used to prevent conflict recurrence.

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Quantitative neurophysiological signal parameters are of value in predicting motor recovery after stroke. The novel role of EEG-derived brain symmetry index for motor function prognostication in the subacute phase after stroke is explored. .

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Unlabelled: Acute neurological manifestations of infectious mononucleosis are uncommon and have been predominantly reported in the paediatric population. We report a case of acute Epstein-Barr virus cerebellitis in an adult in whom spontaneous resolution of symptoms and signs occurred after 2 weeks of supportive treatment. An infective cause for an acute cerebellar syndrome in an adult must always be considered in the differential diagnosis when appropriate.

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