- Dr. George P. Paraskevas, MD, PhD
- Associate Professor of Neurology, Cognitive and Movement Disorders Clinic and Unit of Neurochemistry and Biological Markers, 1st Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Eginition Hospital, Athens, Greece.
Special Issue Introduction
Alzheimer’s disease (AD) is the most common type of dementia, followed by vascular cognitive impairment, Dementia with Lewy bodies (DLB), Frontotemporal Dementias (FTD) and others. Until relatively recently, diagnosis was made according to clinically based criteria. Despite high specificity, the clinicopathological concordance, may not be always high, while in the community, in early cases, in the presence of comorbidities and in atypical presentations, the diagnostic accuracy may be sufficiently reduced. It is now recognized that the various causes of dementia may sometimes present with unusual phenotypes. For example, AD typically presenting as an amnestic dementia, may rarely have frontal, posterior, language and, even, corticobasal-like presentations, while memory may be significantly affected in some patients with FTD. Thus, the same disease may present with different phenotypes and one phenotype may be caused by different diseases/pathologies. Furthermore, mixed pathologies are not infrequent, especially AD mixed with various types of vascular lesions, or DLB with concomitant AD pathology. Such mixed pathologies may modify clinical symptoms and the rate and mode of disease progression.The above are not uncommon reasons for diagnostic confusion. In addition, some patients present very early, in symptomatic but pre-dementia stages (mild cognitive impairment, MCI). Of course, the gold standard for diagnostic verification is pathological examination, which is performed post mortem. However, correct ante mortem diagnosis is necessary since it is likely to affect therapeutic decisions and help in predicting prognosis.
Over the last 2 decades, various biomarkers have been developed in order to serve as a diagnostic aid for correct diagnosis during life. Among them, the classical CSF biomarkers of AD (namely total tau, phospho-tau and amyloid beta peptide) received much attention since they can detect the biochemical fingerprint of Alzheimer's disease during life and they have been incorporated in the recent diagnostic and research criteria for AD and other dementias. Besides in every day practice, biomarker-based correct diagnosis may help in more accurate classification of patients for therapeutic trials, not only in the dementia or pre-dementia (MCI), but also in the presymptomatic stage, as they become abnormal very early in the disease process.
For this special issue of the journal, we request submission of manuscripts concerning the diagnostic potential (but also contributions in the understanding of underlying mechanisms) of classical and emerging CSF biomarkers in neurodegenerative dementias (AD, tauopathies, synucleinopathies, TDP-43 proteinopathies and others), and the various types of vascular cognitive disorder.
Submissions especially (but not exclusively) on the following topics are welcomed:
Classical CSF biomarkers (tau, phospho tau, amyloid-beta) in the early or presymptomatic diagnosis of AD.
Classical biomarkers and/or α-synuclein in synucleinopathies.
Classical biomarkers and/or TDP-43 in frontotemporal lobar degenerations.
Biomarkers for the diagnosis (by exclusion or by inclusion) of vascular cognitive impairment (especially due to subcortical small vessel disease).
Preanalytical, analytical and postanalytical factors affecting the determination of CSF biomarkers and the final interpretation of results.
KeywordsCerebrospinal fluid, tau, phospho-tau, amyloid-beta, Alzheimer’s disease, Lewy body disease, frontotemporal lobar degeneration,α-synuclein, TDP-43, neurofilament light protein
Submission Deadline31 Dec 2019