Publications and presentations using HDClarity data:
• Khetarpal V et al. “Lack of Evidence for Kynurenine Pathway Dysfunction in Huntington’s Disease: CSF and Plasma Analyses from the HDClarity Study. “ J Huntingtons Dis. 2024 Dec
• Ramee Lee “Evaluation of extracellular vesicle isolation methods from human biofluids for HD biomarker identification. “HDTC 2024
• Pfalzer AC et al. “Alterations in Cerebrospinal Fluid Urea Occur in Late Manifest Huntington’s Disease.” J Huntingtons Dis. 2024 Mar
• Wilton et al. “Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington’s disease.” Nat Med. 2023; 29(11): 2866–2884
• Pfalzer et al. “Alterations in metal homeostasis occur prior to canonical markers in Huntington disease.” Scientific Reports 12.1 (2022): 10373
• Rodrigues et al. “Safety and feasibility of research lumbar puncture in Huntington’s disease: The HDClarity cohort and bioresource.” Journal of Huntington’s Disease 11.1 (2022)
• Fodale et al. “Quantifying Huntingtin Protein in Human Cerebrospinal Fluid Using a Novel Polyglutamine Length-Independent Assay.” J Huntingtons Dis. 2022; 11(3): 291–305
• Sanchez et al. “Huntington’s disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization.” J Clin Invest. 2021 Jun 15; 131(12): e140723
• Hassan et al. “Lumbar puncture safety and tolerability in premanifest and manifest Huntington’s disease: a multi-analysis cross-sectional study.” Sci Rep. 2022; 12: 18377
• Johnson et al. “Altered iron and myelin in premanifest Huntington’s Disease more than 20 years before clinical onset: Evidence from the cross-sectional HD Young Adult Study.” EBioMedicine. 2021 Mar; 65: 103266
• Ou et al. “Brain-derived neurotrophic factor in cerebrospinal fluid and plasma is not a biomarker for Huntington’s disease.” Sci Rep. 2021; 11: 3481
• Byrne et al. “Cerebrospinal fluid neurogranin and TREM2 in Huntington’s disease.” Sci Rep. 2018; 8: 4260
Publicly available biomarker datasets derived from HDClarity samples
• CSF biomarker assay results, N=220. Neurofilament light, haemoglobin, total protein, mutant huntingtin, total huntingtin
• Somalogic proteomic data, N=579. Over 7,600 protein analytes in CSF and serum
• Olink proteomic data, N=579. 2,925 proteins measured in CSF and serum
• Mass Spec proteomic data, N=478. Unbiased LC/MS of CSF and plasma