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Frontotemporal lobar degeneration: current knowledge and future challenges

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Abstract

Frontotemporal lobar degeneration (FTLD) is one of the most frequent neurodegenerative disorders with a presenile onset. It presents with a spectrum of clinical manifestations, ranging from behavioral and executive impairment to language disorders and motor dysfunction. New diagnostic criteria identified two main cognitive syndromes: behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia. Regarding bvFTD, new criteria include the use of biomarkers. 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). Familial aggregation is frequently reported in FTLD, and about 10 % of cases have an autosomal dominant transmission. Microtubule-associated protein tau gene mutations have been the first ones identified, and are generally associated with early onset (40–50 years) and with the bvFTD phenotype. More recently, progranulin gene mutations were recognized in association with the familial form of FTLD and a hexanucleotide repetition in C9ORF72 has been shown to be responsible for familial FTLD and amyotrophic lateral sclerosis. In addition, other genes are linked to rare cases of familiar FTLD. Lastly, a number of genetic risk factors for sporadic forms have also been identified.

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Authors and Affiliations

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

    Chiara Cerami & Stefano F. Cappa

  2. Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy

    Elio Scarpini & Daniela Galimberti

Authors
  1. Chiara Cerami
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  2. Elio Scarpini
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  3. Stefano F. Cappa
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  4. Daniela Galimberti
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Correspondence to Daniela Galimberti.

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Cerami, C., Scarpini, E., Cappa, S.F. et al. Frontotemporal lobar degeneration: current knowledge and future challenges. J Neurol 259, 2278–2286 (2012). https://doi.org/10.1007/s00415-012-6507-5

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  • DOI: https://doi.org/10.1007/s00415-012-6507-5

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