Publications by authors named "Sara Sambin"

Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.

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Article Synopsis
  • This study examines how genetic mutations (SNCA, PRKN, LRRK2, GBA) impact the survival rates of patients with monogenic Parkinson's disease.
  • Analyzing data from a national cohort study involving over 2,000 patients, the research found that mutations in PRKN and LRRK2 were associated with longer survival, while SNCA and GBA mutations linked to shorter survival.
  • The findings highlight significant differences in disease progression and mortality based on genetic factors, which can inform genetic counseling and help shape future clinical trials for treatments.
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A variety of neuropsychiatric complications has been described in association with COVID-19 infection. Large scale studies presenting a wider picture of these complications and their relative frequency are lacking. The objective of our study was to describe the spectrum of neurological and psychiatric complications in patients with COVID-19 seen in a multidisciplinary hospital centre over 6 months.

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Delirium occurs in up to 50 % of hospitalized old patients and is associated with increased morbidity and mortality. Acute medical conditions favor delirium, but the pathophysiology is unclear. Preliminary evidence from retrospective and prospective studies suggests that a substantial minority of old patients with unexplained delirium have non-convulsive seizures or status epilepticus (NCSE).

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Experiencing a syntactic structure affects how we process subsequent instances of that structure. This phenomenon, called structural priming, is observed both in language production and in language comprehension. However, while abstract syntactic structures can be primed independent of lexical overlap in sentence production, evidence for structural priming in comprehension is more elusive.

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The role of sub-cortical structures in language processing remains controversial. In particular, it is unclear whether the striatum subserves language-specific processes such as syntax or whether it solely affects language performance via its significant role in executive functioning and/or working memory. Here, in order to address this issue, we attempted to equalize working memory constraints while varying syntactic complexity, to study sentence comprehension in 15 patients with striatal damage, namely Huntington's disease at early stage, and in 15 healthy controls.

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