Publications by authors named "D Saracino"
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND).
Eur J Neurol
December 2024
Background And Purpose: Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by pervasive personality and behavioural disturbances with severe impact on patients and caregivers. In current clinical practice, treatment is based on nonpharmacological and pharmacological approaches. Unfortunately, trial-based evidence supporting symptomatic pharmacological treatment for the behavioural disturbances in FTD is scarce despite the significant burden this poses on the patients and caregivers.
View Article and Find Full Text PDFArticle Synopsis
- GRN mutations lead to a condition known as FTD-GRN, which causes frontotemporal dementia; PR006 is a new gene therapy aimed at delivering the granulin gene using an adeno-associated virus.
- In initial studies, PR006 showed effectiveness in improving various pathological conditions related to FTD-GRN in animal models and was generally well tolerated in non-human primates.
- An ongoing human trial has reported that PR006 was safe for administration with some transient increases in progranulin levels in cerebrospinal fluid, although some patients experienced treatment-related adverse events, such as CSF pleocytosis and deep vein thrombosis.
[Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care].
Geriatr Psychol Neuropsychiatr Vieil
March 2024
Cortico-basal degeneration is a relatively uncommon cause of degenerative parkinsonism in the elderly. From a clinical point of view, it manifests as a cortico-basal syndrome (CBS), featuring a highly asymmetrical akinetic-rigid syndrome, dystonia, myoclonus and cognitive-behavioral impairment with predominant apraxia. Other clinical phenotypes are possible, including variants with mainly language or behavioral impairment, or with axial, symmetrical parkinsonism resembling progressive supranuclear palsy (PSP).
View Article and Find Full Text PDFPurpose: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD).
Methods: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients.