Keywords Parole chiave: Not available. Non disponibili.
Affiliations Affiliazioni: *** IBB - CNR ***
References Riferimenti: Not available. Non disponibili.
Frontotemporal dementia includes several neurodegenerative diseases with predominant frontal and temporal lobes degeneration (FTLD), and, most commonly, presents with two classical forms. The first with changes in personal and social conduct, often associated with disinhibition, is the behavioural or frontal variant FTD (bv-FTLD), while the forms with predominant language impairment recognize two syndromes: primary progressive non-fluent aphasia (PNFA) and semantic dementia (SD). New pathological and genetic studies have given more insights on the great variability observed in FTLD patients. There are two major immunocytochemical subdivisions of FTLD: tauopathies with an accumulation of intraneuronal hyperphosphorylated Tau and pathologies with intraneuronal inclusions immunoreactive to ubiquitin (FTLD-U); the latter have been associated with the identification of TDP-43 as the major ubiquinated protein component of the inclusions. Two major genetic mutations are involved in the FTLD: tau mutations (MAPT) and, more recently, mutations in the progranulin gene (PGRN) on chromosome 17. Many studies found the presence of identifiable relationship between genetic mutations and clinical expression. There is evidence that MAPT and PGRN mutations could be present in various forms of bv-FTLD with characteristic clinical features, while the clinical expression of PNFA seems more linked to PRGN mutation carriers and that of SD to MAPT mutation carriers. Future research has to answer to many unresolved questions.
Aloj L, Aurilio M, Rinaldi V, D'Ambrosio L, Tesauro D, Peitl PK, Maina T, Mansi R, Von Guggenberg E, Joosten L, Sosabowski JK, Breeman WA, De Blois E, Koelewijn S, Melis M, Waser B, Beetschen K, Reubi JC, De Jong M * The EEE project(387 visite) Proc Int Cosm Ray Conf Icrc Universidad Nacional Autonoma De Mexico, 2007; 5(HEPART2): 977-980. Impact Factor:0 DettagliEsporta in BibTeXEsporta in EndNote
52 Records (50 escludendo Abstract e Conferenze). Impact factor totale: 206.093 (199.138 escludendo Abstract e Conferenze). Impact factor a 5 anni totale: 223.107 (213.048 escludendo Abstract e Conferenze).