Cerebrospinal fluid biomarkers for Alzheimer's disease in patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis with the C9ORF72 repeat expansion.
Dement Geriatr Cogn Disord
; 39(5-6): 287-93, 2015.
Article
em En
| MEDLINE
| ID: mdl-25791939
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; Aß1-42, total tau (T-tau) and phospho-tau] are normal in these patients.METHODS:
The CSF Aß1-42, 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 Aß1-42 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 Aß1-42 level does not exclude the C9ORF72 expansion associated with FTLD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Expansão das Repetições de DNA
/
Degeneração Lobar Frontotemporal
/
Doença de Alzheimer
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Dement Geriatr Cogn Disord
Assunto da revista:
GERIATRIA
/
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Finlândia