Browsing by Author "Perez-Lloret, Santiago"

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    Genetics of Neurogenic Orthostatic Hypotension in Parkinson's Disease, Results from a Cross-Sectional In Silico Study.
    (Brain sciences, 2023-03) Chevalier, Guenson; Udovin, Lucas; Otero-Losada, Matilde; Bordet, Sofia; Capani, Francisco; Luo, Sheng; Goetz, Christopher G; Perez-Lloret, Santiago
    The genetic basis of Neurogenic Orthostatic Hypotension (NOH) in Parkinson's disease (PD) has been inadequately explored. In a cross-sectional study, we examined the association between NOH and PD-related single-nucleotide polymorphisms (SNPs) and mapped their effects on gene expression and metabolic and signaling pathways. Patients with PD, free from pathological conditions associated with OH, and not taking OH-associated medications were included. NOH was defined as per international guidelines. Logistic regression was used to relate SNPs to NOH. Linkage-disequilibrium analysis, expression quantitative trait loci, and enrichment analysis were used to assess the effects on gene expression and metabolic/signaling pathways. We included 304 PD patients in the study, 35 of whom had NOH (11.5%). NOH was more frequent in patients with SNPs in SNCA, TMEM175, FAM47E-STBD1, CCDC62, SCN3A, MIR4696, SH3GL2, and LZTS3/DDRGK1 and less frequent in those with SNPs in ITGA8, IP6K2, SIPA1L2, NDUFAF2. These SNPs affected gene expression associated with the significant hierarchical central structures of the autonomic nervous system. They influenced several metabolic/signaling pathways, most notably IP3/Ca++ signaling, the PKA-CREB pathway, and the metabolism of fatty acids. These findings provide new insights into the pathophysiology of NOH in PD and may provide targets for future therapies.
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    Rating Scales for Pain in Parkinson's Disease: Critique and Recommendations
    (Movement Disorders Clinical Practice, 2016-11-01) Perez-Lloret, Santiago; Ciampi de Andrade, Daniel; Lyons, Kelly E; Rodríguez-Blázquez, Carmen; Chaudhuri, Kallol Ray; Deuschl, Guenther; Cruccu, Girgio; Sampaio, Cristina; Goetz, Christopher G; Schrag, Anette; Martinez-Martin, Pablo; Stebbins, Glenn; Members of the MDS Committee on Rating Scales Development
    Background: We aimed at critically appraising the clinimetric properties of existing pain scales or questionnaires and to give recommendations for their use in Parkinson's disease (PD). Methods: Clinimetric properties of pain scales used in PD were systematically evaluated. A scale was classified as ‘recommended’ if was used in PD, showed adequate clinimetric properties, and had been used by investigators other than the original developers; as ‘suggested’ if it was used in PD and fulfilled only one other criterion; and as ‘listed’ if it was used in PD but did not meet the other criteria. Only scales rating pain intensity or for syndromic classification were assessed. Results: Eleven of the 34 scales initially considered fulfilled inclusion criteria. Among the scales rating pain intensity, the “Brief Pain Inventory short form,” “McGill Pain Questionnaire short and long forms,” “Neuropathic Pain Symptoms Inventory,” “11-point Numeric Rating Scale,” “10-cm Visual Analog Scale,” and “Pain-O-Meter” were “recommended with caution” because of lack of clinimetric data in PD, whereas the “King's PD Pain Scale” was “recommended.” Among scales for pain syndromic classification, the “DN4” was “recommended with caution” because of lack of clinimetric data in PD; the “Leeds Assessment of Neuropathic Symptoms and Signs,” “Pain-DETECT,” and the “King's PD Pain Scale” were “suggested.”. Conclusions: King's PD pain scale can be recommended for the assessment of pain intensity in PD. Syndromic classification of pain in PD may be achieved by the DN4, but clinimetric data in PD are needed for this scale.