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      Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Patients with Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis with the C9ORF72 Repeat Expansion

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          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; Aβ<sub>1-42</sub>, total tau (T-tau) and phospho-tau] are normal in these patients. Methods: The CSF Aβ<sub>1-42</sub>, 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 Aβ<sub>1-42</sub> 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 Aβ<sub>1-42</sub> level does not exclude the C9ORF72 expansion associated with FTLD.

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          Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

          Melissa Murray, Mariely DeJesus-Hernandez, Nicola Rutherford … (2011)
          Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a disease spectrum associated with TDP-43 pathology. Strong evidence supporting this is the existence of kindreds with family members affected by FTD, ALS or mixed features of FTD and ALS, referred to as FTD-MND. Some of these families have linkage to chromosome 9, with hexanucleotide expansion mutation in a noncoding region of C9ORF72. Discovery of the mutation defines c9FTD/ALS. Prior to discovery of mutations in C9ORF72, it was assumed that TDP-43 pathology in c9FTD/ALS was uniform. In this study, we examined the neuropathology and clinical features of 20 cases of c9FTD/ALS from a brain bank for neurodegenerative disorders. Included are six patients clinically diagnosed with ALS, eight FTD, one FTD-MND and four Alzheimer-type dementia. Clinical information was unavailable for one patient. Pathologically, the cases all had TDP-43 pathology, but there were three major pathologic groups: ALS, FTLD-MND and FTLD-TDP. The ALS cases were morphologically similar to typical sporadic ALS with almost no extramotor TDP-43 pathology; all had oligodendroglial cytoplasmic inclusions. The FTLD-MND showed predominantly Mackenzie Type 3 TDP-43 pathology, and all had ALS-like pathology in motor neurons, but more extensive extramotor pathology, with oligodendroglial cytoplasmic inclusions and infrequent hippocampal sclerosis. The FTLD-TDP cases had several features similar to FTLD-TDP due to mutations in the gene for progranulin, including Mackenzie Type 1 TDP-43 pathology with neuronal intranuclear inclusions and hippocampal sclerosis. FTLD-TDP patients were older and some were thought to have Alzheimer-type dementia. In addition to the FTD and ALS clinical presentations, the present study shows that c9FTD/ALS can have other presentations, possibly related to age of onset and the presence of hippocampal sclerosis. Moreover, there is pathologic heterogeneity not only between ALS and FTLD, but also within the FTLD group. Further studies are needed to address the molecular mechanism of clinical and pathological heterogeneity of c9FTD/ALS due to mutations in C9ORF72.
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            Prevalence of dementia disorders in the oldest-old: an autopsy study.

            Johannes Attems, Kurt A Jellinger (2010)
            The prevalence of Alzheimer disease (AD) and vascular dementia (VD) increases with advancing age, but less so after age 90 years. A retrospective hospital-based study of the relative prevalence of different disorders was performed in 1,110 consecutive autopsy cases of demented elderly in Vienna, Austria (66% females, MMSE <20; mean age 83.3 +/- 5.4 SD years). It assessed clinical, general autopsy data and neuropathology including immunohistochemistry. Neuropathologic diagnosis followed current consensus criteria. Four age groups (7-10th decade) were evaluated. In the total cohort AD pathology was seen in 82.9% ("pure" AD 42.9%; AD + other pathologies 39.9%), VD in 10.8% (mixed dementia, MIX, i.e. AD + vascular encephalopathy in 5.5%); other disorders in 5.7%, and negative pathology in 0.8%. The relative prevalence of AD increased from age 60 to 89 years and decreased slightly after age 90+, while "pure" VD diagnosed in the presence of vascular encephalopathy of different types with low neuritic AD pathology (Braak stages <3; mean 1.2-1.6) decreased progressively from age 60 to 90+; 85-95% of these patients had histories of diabetes, morphologic signs of hypertension, 65% myocardial infarction/cardiac decompensation, and 75% a history of stroke(s). Morphologic subtypes, subcortical arteriosclerotic (the most frequent), multi-infarct encephalopathy, and strategic infarct dementia showed no age-related differences. The relative prevalence of AD + Lewy pathology remained fairly constant with increasing age. Mixed dementia and AD with minor cerebrovascular lesions increased significantly with age, while other dementias decreased. This retrospective study using strict morphologic criteria confirmed increased prevalence of AD with age, but mild decline at age 90+, and progressive decline of VD, while AD + vascular pathologies including MIX showed considerable age-related increase, confirming that mixed pathologies account for most dementia cases in very old persons. A prospective clinicopathologic study in oldest-old subjects showed a significant increase in both AD and cerebral amyloid angiopathy (CAA), but decrease in VD over age 85, while in a small group of old subjects CAA without considerable AD pathology may be an independent risk factor for cognitive decline.
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              Mixed Brain Pathologies in Dementia: The BrainNet Europe Consortium Experience

              Gabor Kovacs, Irina Alafuzoff, Safa Al-Sarraj … (2008)
              Background: Dementia results from heterogeneous diseases of the brain. Mixed disease forms are increasingly recognized. Methods: We performed a survey within brain banks of BrainNet Europe to estimate the proportion of mixed disease forms underlying dementia and age- and gender-specific influences. Results: Data collected in 9 centres from 3,303 individuals were analysed. The proportion of patients with mixed diagnoses among all cases with Alzheimer disease (AD), vascular pathology (VP), argyrophilic grain dementia (AGD), and synucleinopathies, such as Lewy body dementia (LBD), Parkinson disease (PD) and synuclein pathology only in the amygdala, was 53.3%. Mixed pathology was more frequently reported with LBD, PD, AGD, and VP than with AD. The percentage of mixed diagnoses for AGD and VP significantly differed between centres. In patients younger than 75 years, synucleinopathies, and pure forms of AD, VP, and AGD were more frequent in men. Above 75 years of age, more women had pure AD and pure AGD. Conclusions: The most obvious neuropathological alteration should not terminate the diagnostic procedure since copathology is likely to be found. Neuropathological interpretation of AGD and VP has not been sufficiently established in a consensus. Pure forms of synucleinopathies are unlikely sole substrates for dementia.
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                Author and article information

                Journal
                Journal ID (publisher-id): DEM
                Journal ID (nlm-ta): Dement Geriatr Cogn Disord
                Journal ID (doi): 10.1159/issn.1420-8008
                Title: Dementia and Geriatric Cognitive Disorders
                Publisher: S. Karger AG
                ISSN (Print): 1420-8008
                ISSN (Electronic): 1421-9824
                Publication date Subscription-year: 2015
                Publication date (Print): May 2015
                Publication date (Electronic): 13 March 2015
                Volume: 39
                Issue: 5-6
                Pages: 287-293
                Affiliations
                aInstitute of Clinical Medicine - Neurology, University of Eastern Finland, and bDepartment of Neurology, Kuopio University Hospital, Kuopio, cDepartment of Neurology, Oulu University Hospital, Oulu, dResearch Program Unit for Molecular Neurology, University of Helsinki, and eDepartment of Neurology, Helsinki University Central Hospital, Helsinki, Finland
                Author notes
                *Prof. Anne M. Remes, Institute of Clinical Medicine - Neurology, University of Eastern Finland, PO Box 1627, FI-70211 Kuopio (Finland), E-Mail anne.remes@uef.fi
                Article
                Publisher ID: 371704 Other ID: Dement Geriatr Cogn Disord 2015;39:287-293
                DOI: 10.1159/000371704
                PubMed ID: 25791939
                SO-VID: b3ad0eea-be72-4e2c-8aa8-d5aaf66b844e
                Copyright © © 2015 S. Karger AG, Basel
                License:

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date accepted : 16 December 2014
                Page count
                Figures: 1, Tables: 2, References: 35, Pages: 7
                Categories
                Subject: Original Research Article

                ScienceOpen disciplines: Geriatric medicine,Neurology,Cardiovascular Medicine,Neurosciences,Clinical Psychology & Psychiatry,Public health
                Keywords: TDP-43,Non-Alzheimerߣs dementia,Cerebrospinal fluid,Motor neuron disease,Alzheimerߣs disease, C9ORF72 ,Frontotemporal lobar degeneration,Biomarkers
                Data availability:
                ScienceOpen disciplines: Geriatric medicine, Neurology, Cardiovascular Medicine, Neurosciences, Clinical Psychology & Psychiatry, Public health
                Keywords: TDP-43, Non-Alzheimerߣs dementia, Cerebrospinal fluid, Motor neuron disease, Alzheimerߣs disease, C9ORF72 , Frontotemporal lobar degeneration, Biomarkers

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