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Trajectories of brain structure and function in young adult carriers of genetic frontotemporal dementia variants.

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Related Experiment Video

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Using Retinal Imaging to Study Dementia
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An update on genetic frontotemporal dementia.

Caroline V Greaves1, Jonathan D Rohrer2

  • 1Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Journal of Neurology
|May 24, 2019
PubMed
Summary

Genetic frontotemporal dementia (FTD) involves mutations in C9orf72, GRN, and MAPT genes. Research is advancing biomarker and therapeutic strategies for presymptomatic genetic FTD, improving early detection and patient support.

Keywords:
BiomarkersC9orf72Frontotemporal dementiaNeurogeneticsProgranulinTau

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Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases
  • Clinical Neurology

Background:

  • Frontotemporal dementia (FTD) is a heritable neurodegenerative disorder, with genetic factors accounting for significant heritability.
  • Autosomal dominant mutations in C9orf72, GRN, and MAPT genes are primary drivers of genetic FTD.
  • Genetic modifiers like TMEM106B and a C6orf10 locus polymorphism influence symptom onset and presentation.

Purpose of the Study:

  • To review recent advancements in genetic frontotemporal dementia (FTD).
  • To discuss the identification of genetic modifiers affecting disease onset and presentation.
  • To highlight the progress in natural history studies, biomarker validation, and the development of therapeutic strategies for genetic FTD.

Main Methods:

  • Review of current literature on genetic FTD, including genetic modifiers and clinical presentations.
  • Analysis of data from large-scale natural history studies (GENFI, ARTFL/LEFFTDS) focusing on presymptomatic individuals.
  • Evaluation of imaging (MRI, FDG-PET) and fluid biomarkers (CSF, blood) for disease detection and progression monitoring.

Main Results:

  • Behavioral variant FTD (bvFTD) is the most common diagnosis, with C9orf72 carriers also showing high rates of amyotrophic lateral sclerosis and atypical neuropsychiatric presentations.
  • Neuroimaging reveals pre-symptomatic changes, including grey matter reduction and hypometabolism, appearing years before symptom onset.
  • Key fluid biomarkers like neurofilament light chain, progranulin, and poly(GP) dipeptide repeat proteins show promise for clinical trials.

Conclusions:

  • Significant progress has been made in understanding genetic FTD, including genetic modifiers and early disease markers.
  • Natural history studies and biomarker validation are crucial for developing effective disease-modifying therapies.
  • There is an urgent need for standardized presymptomatic testing protocols and psychological support for at-risk individuals and families.