[New insights in frontotemporal dementia].

Area of Science:

• Neuroscience
• Neuropathology
• Genetics

Context:

• Frontotemporal dementia (FTD) presents with progressive behavioral disturbances, aphasia, and cognitive decline.
• Characteristic findings include frontotemporal atrophy and frontal lobe hypoperfusion.
• Neuropathology reveals abnormal tau protein deposition or non-specific changes.

Purpose:

• To describe the clinical, imaging, and neuropathological features of Frontotemporal dementia (FTD).
• To highlight the genetic basis of FTD, including tau gene mutations.
• To inform about the availability and implications of presymptomatic DNA testing.

Summary:

• FTD is a neurodegenerative disorder affecting behavior and cognition.
• Imaging shows frontotemporal atrophy and hypoperfusion.
• Abnormal tau protein is implicated in some FTD cases, with genetic mutations identified.
• A familial form with autosomal dominant inheritance occurs in 20% of patients.
• Presymptomatic DNA testing for tau mutations is available after genetic counseling.

Impact:

• Advances understanding of FTD's heterogeneous nature.
• Identifies key diagnostic markers and neuropathological hallmarks.
• Enables genetic counseling and presymptomatic testing for at-risk families.
• Facilitates research into FTD pathogenesis and potential therapies.