Publications by authors named "L M Higginbotham"
Pathogenic variants in the gene represent the most common cause of autosomal dominant Parkinson's disease (PD) worldwide. We identified the p.L1795F variant in 14 White/European ancestry PD patients, including two families with multiple affected carriers and seven additional affected individuals with familial PD using genotyping and sequencing data from more than 50,000 individuals through GP2, AMP-PD, PDGENEration, and CENTOGENE.
View Article and Find Full Text PDFPrevalence and clinical features of cervical dystonia in Parkinson's disease.
Parkinsonism Relat Disord
October 2024
Article Synopsis
- The study aimed to determine how common cervical dystonia (CD) is among patients with Parkinson's disease (PD) and to identify its clinical features.
- Out of 301 PD patients examined, 28 (9.3%) were found to have CD, which is significantly higher than what's typically seen in the general population, highlighting that CD is more common in PD cases.
- The characteristics of CD-PD differ from idiopathic cervical dystonia (ICD) patients in terms of gender, age, severity, and response to medication, suggesting the need for more extensive research to explore these differences further.
Article Synopsis
- Alzheimer's disease and osteoporosis are common age-related conditions linked by unknown molecular mechanisms, prompting this study.
- Researchers conducted network analysis of brain and bone RNA data from several participants to identify shared molecular pathways.
- Findings revealed interconnected gene modules between both diseases, particularly highlighting the role of Wnt signaling, suggesting potential avenues for treatment and biomarker development.
Lewy body dementia (LBD), a class of disorders comprising Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB), features substantial clinical and pathological overlap with Alzheimer's disease (AD). The identification of biomarkers unique to LBD pathophysiology could meaningfully advance its diagnosis, monitoring, and treatment. Using quantitative mass spectrometry (MS), we measured over 9,000 proteins across 138 dorsolateral prefrontal cortex (DLPFC) tissues from a University of Pennsylvania autopsy collection comprising control, Parkinson's disease (PD), PDD, and DLB diagnoses.
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