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Frontotemporal lobar degeneration: current knowledge and future challenges.

Chiara Cerami1, Elio Scarpini, Stefano F Cappa

  • 1Neurorehabilitation Unit, Department of Clinical Neurosciences, San Raffaele Scientific Institute, Vita Salute University, Milan, Italy.

Journal of Neurology
|April 26, 2012
PubMed
Summary
This summary is machine-generated.

Frontotemporal lobar degeneration (FTLD) is a common presenile neurodegenerative disorder. Genetic factors, including mutations in MAPT, GRN, and C9ORF72, play a significant role in familial FTLD and related syndromes.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Frontotemporal lobar degeneration (FTLD) is a frequent neurodegenerative disorder with presenile onset.
  • It manifests with diverse clinical symptoms, including behavioral, executive, language, and motor impairments.
  • New diagnostic criteria define two main syndromes: behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia.

Purpose of the Study:

  • To review the diagnostic criteria for bvFTD, incorporating biomarkers.
  • To discuss the genetic underpinnings of FTLD, focusing on familial forms.
  • To highlight the identified genetic risk factors for sporadic FTLD.

Main Methods:

  • Review of current diagnostic criteria for FTLD and bvFTD.
  • Summary of genetic findings in familial FTLD, including mutations in MAPT, GRN, and C9ORF72.
  • Identification of genetic risk factors for sporadic FTLD.

Main Results:

  • bvFTD classification now includes "possible," "probable," and "definite" categories based on clinical features and biomarkers.
  • Familial FTLD accounts for about 10% of cases, often with autosomal dominant transmission.
  • Mutations in MAPT, GRN, and C9ORF72 are key genetic drivers of familial FTLD and related conditions like ALS.

Conclusions:

  • Biomarkers are integral to the updated diagnostic criteria for bvFTD.
  • Genetic mutations are crucial in understanding the etiology of familial FTLD.
  • Ongoing research continues to uncover genetic risk factors for both familial and sporadic FTLD.