Satisfaction and Preferences for Infusion Therapies in Advanced Parkinson’s Disease—Patient Perspective DOI Creative Commons
Julia Węgrzynek-Gallina, Tomasz Chmiela, Michał Borończyk

и другие.

Medicina, Год журнала: 2024, Номер 61(1), С. 27 - 27

Опубликована: Дек. 28, 2024

Background and Objectives: The rapid growth of the number advanced Parkinson’s disease (PD) patients has caused a significant increase in use device-aided therapies (DATs), including levodopa–carbidopa intestinal gel (LCIG) continuous subcutaneous apomorphine infusion (CSAI). objective this study was to evaluate patients’ satisfaction factors influencing preferences for CSAI LCIG. Materials Methods: research focused on individuals diagnosed with PD undergoing DAT at Neurology Department University Hospital Katowice. A telephone survey conducted between June July 2024 evaluated experiences LCIG CSAI. Disease Questionnaire (PDQ-8) Stress Scale Family Caregivers (BSFC-s) were applied. Based medical record data comprising reasons exclusion individuals, disease-related treatment collected. Results: Among original cohort 64 patients, 50 completed survey, 31 who might choose therapies. average patient ages 70.6 ± 4.7 (CSAI) 71.2 7.2 years (LCIG), durations 15 (IQR: 12–19) 18 13–19) years, respectively. presented higher PDQ-8 scores (20 13–27) vs. 13 6–19), p = 0.008), BSFC-s (19 12–21) 9 2.5–13), 0.011). Furthermore, included fear surgery (75% 36.8%, 0.043) concerns about safety (83.3% 47.4%, 0.049). Conclusions: offer benefits disadvantages, seeming be decisive decision-making process.

Язык: Английский

TDP‐43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP‐43 Proteinopathies DOI Creative Commons
Sarah Pickles, Jesús González Bejarano,

Anusha Narayan

и другие.

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Янв. 9, 2025

Abstract Background Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin ( DCTN1 ). PS brains accumulate inclusions positive for ubiquitin, transactive‐response DNA‐binding protein of 43 kDa (TDP‐43), to lesser extent dynactin. Objectives Little known regarding the contributions TDP‐43, an RNA binding that represses cryptic exon inclusion, PS. Therefore, we sought identify degree TDP‐43 dysfunction two regions brains. Methods We evaluated levels insoluble pTDP‐43 TDP‐43‐regulated RNAs caudate nucleus substantia nigra 7 cases, 12 cases frontotemporal lobar degeneration (FTLD) with pathology, 11 cognitively healthy controls without pathology. Results Insoluble were detected similar but lower than those FTLD The showed accumulation eight ACTL6B , CAMK2B STMN2 UNC13A KCNQ2 ATG4B GPSM2 HDGFL2 ) (HDGFL2) characteristic FTLD. Conversely, only one target, reached significance despite levels. Conclusion nucleus. Given importance biology development biomarkers, identification novel targets therapeutic intervention, it imperative understand consequences across different brain determine are specific common proteinopathies. © 2025 Author(s). Movement Disorders published Wiley Periodicals LLC on behalf International Parkinson Disorder Society.

Язык: Английский

Процитировано

0
Genetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation DOI
Roopa Rajan, Vikram V. Holla,

Nitish Kamble

и другие.

Parkinsonism & Related Disorders, Год журнала: 2024, Номер unknown, С. 107146 - 107146

Опубликована: Сен. 1, 2024

Язык: Английский

Процитировано

3
Genetic Screening for Prkn and Pink1 in Patients with Early-Onset Parkinson's Disease from Ecuador DOI

Tobias M. Franz,

Rohitha K. Punathil,

Alexandra I. Soto‐Beasley

и другие.

Опубликована: Янв. 1, 2024

Язык: Английский

Процитировано

0
Widespread Distribution of α-Synuclein Oligomers inLRRK2-related Parkinson's Disease DOI Creative Commons
Hiroaki Sekiya, L. Franke, Yuki Hashimoto

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Дек. 20, 2024

Abstract Mutations in leucine-rich repeat kinase 2 ( LRRK2 ) are the most common cause of familial and sporadic Parkinson’s disease (PD). While clinical features -PD patients resemble those typical PD, there significant differences pathological findings. The hallmark definite PD is presence α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half cases do not have pathology. pathology a late-stage αSYN aggregation that can be visualized with hematoxylin eosin stains or conventional immunohistochemistry (IHC). Increasing evidence has indicated oligomers, which represent early-stage aggregation, may neurotoxicity. Visualization oligomers requires specialized staining techniques, such as αSYN-proximity ligation assay (PLA). distribution severity human brain remain unknown. In this study, we performed phosphorylated αSYN-IHC αSYN-PLA on postmortem sections three pathogenic mutants: p.G2019S (n=5), p.I2020T p.R1441C (n=4). were assessed semi-quantitatively brainstem, limbic lobe, basal ganglia, cerebral cortex. detected even without negative correlation was observed between (r=-0.26 [-0.39, -0.12]; P<0.0001). Our findings suggest feature -PD. Notably, harboring had significantly higher levels compared to These also trend toward shorter duration. results imply -PD, initially accumulate but progress form present study suggests targeting therapeutic strategy for if no

Язык: Английский

Процитировано

0
Satisfaction and Preferences for Infusion Therapies in Advanced Parkinson’s Disease—Patient Perspective DOI Creative Commons
Julia Węgrzynek-Gallina, Tomasz Chmiela, Michał Borończyk

и другие.

Medicina, Год журнала: 2024, Номер 61(1), С. 27 - 27

Опубликована: Дек. 28, 2024

Background and Objectives: The rapid growth of the number advanced Parkinson’s disease (PD) patients has caused a significant increase in use device-aided therapies (DATs), including levodopa–carbidopa intestinal gel (LCIG) continuous subcutaneous apomorphine infusion (CSAI). objective this study was to evaluate patients’ satisfaction factors influencing preferences for CSAI LCIG. Materials Methods: research focused on individuals diagnosed with PD undergoing DAT at Neurology Department University Hospital Katowice. A telephone survey conducted between June July 2024 evaluated experiences LCIG CSAI. Disease Questionnaire (PDQ-8) Stress Scale Family Caregivers (BSFC-s) were applied. Based medical record data comprising reasons exclusion individuals, disease-related treatment collected. Results: Among original cohort 64 patients, 50 completed survey, 31 who might choose therapies. average patient ages 70.6 ± 4.7 (CSAI) 71.2 7.2 years (LCIG), durations 15 (IQR: 12–19) 18 13–19) years, respectively. presented higher PDQ-8 scores (20 13–27) vs. 13 6–19), p = 0.008), BSFC-s (19 12–21) 9 2.5–13), 0.011). Furthermore, included fear surgery (75% 36.8%, 0.043) concerns about safety (83.3% 47.4%, 0.049). Conclusions: offer benefits disadvantages, seeming be decisive decision-making process.

Язык: Английский

Процитировано

0