Publications

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

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