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Biomarkers in frontotemporal lobar degenerations--progress and challenges
William T Hu1, John Q Trojanowski, Leslie M Shaw
1Department of Neurology, Center for Neurodegenerative Diseases, Emory University, Atlanta, GA 30322, USA. william.hu@emory.edu
Progress in Neurobiology
|May 11, 2011
Summary
Frontotemporal lobar degeneration (FTLD) involves tau, TDP-43, and FUS protein changes. Developing reliable biomarkers for early detection and accurate pathology prediction remains a critical challenge for effective FTLD therapies.
Area of Science:
- Neuroscience
- Neuropathology
- Biomarker Discovery
Background:
- Frontotemporal lobar degeneration (FTLD) is characterized by neuronal and glial changes involving tau, TAR DNA binding protein of ~43 kDa (TDP-43), and fused in sarcoma (FUS).
- Clinical presentations of FTLD often include behavioral or language deficits, potentially with extrapyramidal signs or motor neuron disease.
- Genetic mutations in tau, TDP-43, and FUS genes confirm their pathogenic roles in FTLD, highlighting their dysfunction as therapeutic targets.
Purpose of the Study:
- To review the current progress in identifying reliable biomarkers for early detection of FTLD.
- To discuss the challenges in correlating clinical syndromes and imaging findings with underlying FTLD pathology.
- To explore the potential of various biomarker types, including biochemical markers, for FTLD diagnosis and management.
Main Methods:
- Review of existing literature on FTLD biomarkers.
- Analysis of clinical phenotypes, neuropsychological assessments, and cerebrospinal fluid (CSF) and plasma analytes.
- Examination of brain imaging techniques for detecting atrophy and network dysfunction.
Main Results:
- No single reliable biomarker currently exists for early FTLD detection or accurate prediction of underlying pathology.
- Clinical and structural imaging biomarkers show limitations in correlating with individual patient pathology.
- Biochemical markers in CSF and plasma require further validation in multi-center studies for accuracy and pathological significance.
Conclusions:
- Accurate FTLD biomarker development is crucial for targeted therapies.
- Further multi-center studies are essential to validate biochemical markers in CSF and plasma.
- Collaboration with experts in related disorders like ALS and PSP is vital for clinical translation of FTLD biomarkers.
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