Patients with Parkinson's disease (PD) manifest visual losses. However, it is not known whether these losses are equivalent in both early-onset (EOPD) and late-onset (LOPD) patients. We evaluated contrast sensitivity and color vision in EOPD and LOPD patients and in age-matched controls. Losses occurred in both patient groups but were more pronounced in EOPD, consistent with the notion that non-motor symptoms are affected by age of symptom onset. More studies of visual function in EOPD and LOPD patients are needed to understand how aging is related to the pathophysiology of non-motor PD symptomatology. This would permit earlier diagnosis and, perhaps, better management of the disease.
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http://dx.doi.org/10.1364/JOSAA.382042 | DOI Listing |
Mol Genet Metab Rep
March 2025
Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.
Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.
BMC Musculoskelet Disord
January 2025
Pain Medicine Section, Anesthesiology Dept, Hospital Clinic de Barcelona, Barcelona, Spain.
Background: Multidisciplinary programs are the first recommendation for non-specific chronic low-back pain, but implementing this type of program is complicated to get up and running. The primary aim of this study was to assess the feasibility and appropriateness of the PAINDOC multidisciplinary program for subjects with chronic low-back pain. The secondary objectives were to evaluate the decrease in pain intensity, pain-related disability and pain catastrophizing, as well as the improvement in quality of life with this program.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFJ Neurol
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle-upon-Tyne, UK.
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The primary endpoint was change in 6-min walk distance (6MWD) from baseline to week 52. During PROPEL, COVID-19 interrupted some planned study visits and assessment windows, leading to delayed visits, make-up assessments for patients who missed ≥ 3 successive infusions before planned assessments at weeks 38 and 52, and some advanced visits (end-of-study/early-termination visits).
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.
Background And Objectives: The role of N-methyl-D-aspartate receptor 2B (GRIN2B) single nucleotide polymorphisms (SNPs) in influencing the risk and progression of Parkinson's disease (PD) is still unclear. This study aimed to assess the impact of GRIN2B genotype status on PD susceptibility and symptom progression.
Methods: We enrolled 165 individuals with sporadic PD and 154 healthy controls, all of whom had comprehensive clinical data available at the start and during follow-up.
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