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.
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.
Authors: Eino Solje; Alberto Benussi; Emanuele Buratti; Anne M Remes; Annakaisa Haapasalo; Barbara Borroni Journal: Diagnostics (Basel) Date: 2021-04-27
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Authors: Anna Junttila; Mari Kuvaja; Päivi Hartikainen; Maritta Siloaho; Seppo Helisalmi; Virpi Moilanen; Anna Kiviharju; Lilja Jansson; Pentti J Tienari; Anne Marja Remes; Sanna-Kaisa Herukka Journal: Dement Geriatr Cogn Dis Extra Date: 2016-04-16
Authors: Ignacio Illán-Gala; Jordi Pegueroles; Victor Montal; Daniel Alcolea; Eduard Vilaplana; Alexandre Bejanin; Sergi Borrego-Écija; Frederic Sampedro; Andrea Subirana; María-Belén Sánchez-Saudinós; Ricard Rojas-García; Hugo Vanderstichele; Rafael Blesa; Jordi Clarimón; Anna Antonell; Albert Lladó; Raquel Sánchez-Valle; Juan Fortea; Alberto Lleó Journal: Ann Clin Transl Neurol Date: 2019-12-02 Impact factor: 4.511