We used a rotation-sensitive movement monitor (RoMM) to quantify and characterize dyskinesia in Parkinson's disease (PD). Both upper limbs of 22 patients with dyskinetic PD were recorded and videotaped simultaneously. Three neurologists reviewed the video segments and rated severity of dyskinesia on a four-point scale; they also assessed any asymmetry of dyskinesia between the right and left side as well as the dyskinesia type (choreic, dystonic, or mixed). Mean and median clinical ratings for severity, asymmetry, and type of dyskinesia were compared with (1) the total power of the frequency power spectrum (FPS, degrees/second), (2) the percent difference of FPS values between the right and left side, and (3) the frequency (Hz) of the predominant peak, respectively. Intra- and interrater reliability was determined and a test-retest analysis was performed. FPS values showed a statistically significant correlation with the clinical ratings for dyskinesia severity. FPS difference between both sides was more sensitive than raters in detecting dyskinesia asymmetry. A predominant frequency peak of dyskinesia was obtained in all cases and ranged from 0.25-3.25 Hz. There was a significant trend for high-frequency dyskinesia to correlate with choreic type and for low-frequency dyskinesia to correlate with dystonic type. Test-retest analysis indicated a high reliability. We conclude that the RoMM is a valid, reliable, and sensitive method to quantify and characterize dyskinesia. Examples are provided suggesting that this instrument may prove useful for long-term assessment of dyskinetic patients and as a standardized tool for assessing dyskinesia in pharmaceutical or surgical trials for PD.
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http://dx.doi.org/10.1002/1531-8257(199909)14:5<754::aid-mds1007>3.0.co;2-1 | DOI Listing |
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFJ Clin Immunol
January 2025
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children´s Medical Center, Tehran University of Medical Sciences, 62 Qarib St., Keshavarz Blvd, Tehran, 14194, Iran.
Background: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.
View Article and Find Full Text PDFCell Mol Life Sci
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China.
Defects in motile cilia and flagella lead to motile ciliopathies, including primary ciliary dyskinesia (PCD), which manifests as multi-organ dysfunction such as hydrocephalus, infertility, and respiratory issues. CFAP65 variants are a common cause of male infertility, but its localization and function have remained unclear. In this study, we systematically evaluated CFAP65's role using Cfap65 knockout mice and human patients with CFAP65 variants.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Neurology of First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease caused by abnormally expanded CAG repeats in the ATXN3 gene. The study aimed to identify potential biomarkers for assessing therapeutic efficacy by investigating the associations between expanded CAG repeat size, brain and spinal cord volume loss, and motor functions in patients with SCA3.
Methods: In this prospective, cross-observational study, we analyzed 3D T1-weighted MRIs from 92 patients with SCA3 and 42 healthy controls using voxel-based morphometry and region of interest approaches.
J Neurol
January 2025
Department of Neurobiology and Behavior, University of California Irvine, Irvine, CA, USA.
Fluid biomarkers play important roles in many aspects of neurodegenerative diseases, such as Huntington's disease (HD). However, a main question relates to how well levels of biomarkers measured in CSF are correlated with those measured in peripheral fluids, such as blood or saliva. In this study, we quantified levels of four neurodegenerative disease-related proteins, neurofilament light (NfL), total tau (t-tau), glial fibrillary acidic protein (GFAP) and YKL-40 in matched CSF, plasma and saliva samples from Huntingtin (HTT) gene-positive individuals (n = 21) using electrochemiluminescence assays.
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