Article Text

Download PDFPDF

D02 Cerebrospinal fluid amyloid beta and glial fibrillary acidic protein concentrations in huntington’s disease
  1. Sara Korpela1,
  2. Jimmy Sundblom2,
  3. Henrik Zetterberg3,
  4. Radu Constantinescu4,
  5. Per Svenningsson5,
  6. Martin Paucar Arce5,
  7. Valter Niemelä6
  1. 1Västerås Central Hospital, Department of Medicine, Neurology, Västerås, Sweden
  2. 2Department of Neuroscience, Neurosurgery, Uppsala University, Uppsala, Sweden
  3. 3Institute of Neuroscience and Physiology, Clinical Neurochemistry Laboratory, The Sahlgrenska Academy, University of Gothenburg, Mölndal/Gothenburg, Sweden
  4. 4Institute of Neuroscience and Physiology; Clinical Neuroscience, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  5. 5Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
  6. 6Department of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden


Background Huntington’s disease (HD) is a monogenic disease lacking a cure. Biomarkers are needed for objective assessment of disease progression. Evidence supports both complex protein aggregation and astrocyte activation in HD.

Aims This study assesses the potential of the 42 amino acid long amyloid beta (Aβ42) and glial fibrillary acidic protein (GFAP) as biomarkers in cerebrospinal fluid (CSF) of HD mutation carriers.

Methods CSF was obtained from manifest HD patients (ManHD), premanifest HD-gene-expansion carriers (PreHD) and gene-negative controls (controls). Disease Burden Score (DBS) and Total Functional Capacity (TFC) were calculated. Protein concentrations were measured by enzyme-linked immunosorbent assays (ELISA) and intergroup differences were analyzed using Mann-Whitney U test. Association with disease stage was assessed with Spearman correlations and age-adjustment was included in the statistical tests.

Results The study enrolled 27 ManHD and 13 PreHD subjects. The number of controls differed in the analysis of Aβ42 and GFAP (n = 19, and 8 respectively). Aβ42 levels were higher in ManHD (mean 741 ng/l, SD 361) compared with PreHD (mean 468 ng/l, SD 184) (p = 0.025). The GFAP concentration was higher in ManHD (mean 435 ng/l, SD 255) compared with both PreHD (mean 266 ng/l, SD 92.4) (p = 0.040) and controls (mean 208 ng/l, SD 83.7) (p = 0.011). GFAP correlated with DBS (r = 0.361, p = 0.028), TFC (r = −0.463, p = 0.005), and with 5-year risk of onset in PreHD (r = 0.694, p = 0.008). There was no correlation between Aβ42 concentration and DBS, TFC or 5-year risk of onset.

Conclusion CSF Aβ42 levels did not correlate with disease stage suggesting no Aβ aggregation in HD. GFAP is a potential biomarker in HD with association to disease stage. Validation in a larger HD cohort is needed.

  • amyloid beta
  • glial fibrillary acidic protein
  • GFAP
  • neurodegeneration
  • neuroinflammation
  • astrocyte activation

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.