Frontotemporal Lobar Degeneration

Research output: Chapter in Book/Report/Conference proceedingChapter


Frontotemporal lobar degeneration (FTLD) is the most frequent dementia in the presenile population. It presents with different syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary non-fluent aphasia (PNFA), semantic dementia (SD), and logophenic aphasia. Motor neuron degeneration often co-occurs with FTLD. In the last few years, different autosomal-dominant mutations have been demonstrated to be the cause of the familial aggregation frequently reported in FTLD. Major causal genes so far discovered include microtubule-associated protein tau (MAPT), progranulin (GRN), chromosome 9 open reading frame (C9ORF). 72. Mutations in MAPT are generally associated with early onset and with the bvFTD phenotype, whereas mutations in GRN and C9ORF72 are associated with high clinical heterogeneity and age at disease onset. In addition, other genes are linked to rare cases of familial FTLD. In 2011, new diagnostic criteria bvFTD, which include the use of biomarkers, have been published. According to them, bvFTD can be classified in "possible" (clinical features only), "probable" (inclusion of imaging biomarkers), and "definite" (in the presence of a known causal mutation or at autopsy).

Original languageEnglish
Title of host publicationDiet and Nutrition in Dementia and Cognitive Decline
PublisherElsevier Inc.
Number of pages10
ISBN (Print)9780124079397, 9780124078246
Publication statusPublished - Nov 18 2014


  • C9ORF72
  • Frontotemporal lobar degeneration
  • Genetics
  • Progranulin (GRN)
  • Risk factor
  • Tau

ASJC Scopus subject areas

  • Nursing(all)


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