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- Title
Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Patients with Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis with the C9ORF72 Repeat Expansion.
- Authors
Kämäläinen, Anna; Herukka, Sanna-Kaisa; Hartikainen, Päivi; Helisalmi, Seppo; Moilanen, Virpi; Knuuttila, Anna; Jansson, Lilja; Tienari, Pentti J.; Remes, Anne M.
- Abstract
Background: The C9ORF72 expansion is one of the most common causes of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The C9ORF72 expansion is associated with TDP-43 and p62 neuropathology, and amyloid plaques and neurofibrillary tangles are not common in patients with the C9ORF72 expansion. Therefore, we hypothesized that cerebrospinal fluid (CSF) biomarkers for Alzheimer's disease [AD; Aβ1-42, total tau (T-tau) and phospho-tau] are normal in these patients. Methods: The CSF Aβ1-42, T-tau and phospho-tau levels were measured in 40 Finnish patients with the C9ORF72 expansion (29 FTLD, 10 ALS and 1 FTLD-ALS) using ELISA. Results: A decreased Aβ1-42 level was found in 25% of cases, while there were only single cases with changes in the t-Tau or phospho-tau level. The patients with abnormal biomarkers fulfilled the clinical criteria of the behavioral variant frontotemporal dementia and expressed no clinical signs of AD. Conclusions: In clinical diagnostics, a decreased CSF Aβ1-42 level does not exclude the C9ORF72 expansion associated with FTLD. © 2015 S. Karger AG, Basel
- Subjects
FINLAND; ALZHEIMER'S disease diagnosis; GENETICS of Alzheimer's disease; ACADEMIC medical centers; ALZHEIMER'S disease; AMYOTROPHIC lateral sclerosis; BIOMARKERS; CHI-squared test; STATISTICAL correlation; ENZYME-linked immunosorbent assay; LONGITUDINAL method; NEUROPSYCHOLOGICAL tests; GENETIC mutation; POLYMERASE chain reaction; PROBABILITY theory; RESEARCH funding; PHENOTYPES; DATA analysis software; SIGNAL peptides; DESCRIPTIVE statistics; MANN Whitney U Test; GENOTYPES; FRONTOTEMPORAL lobar degeneration; DIAGNOSIS
- Publication
Dementia & Geriatric Cognitive Disorders, 2015, Vol 39, Issue 5/6, p287
- ISSN
1420-8008
- Publication type
Article
- DOI
10.1159/000371704