Cic edizioni internazionali
Functional Neurology

Recent advances in the molecular genetics of frontotemporal lobar degeneration

Review article, 7 - 16
doi: 10.11138/FNeur/2017.32.1.007
Tag this article
Abstract
Enhanced HTML Full text PDF
The term frontotemporal lobar degeneration (FTLD) describes a spectrum of neurodegenerative disorders associated with deposition of misfolded proteins in the frontal and temporal lobes. Up to 40% of FTLD patients reports a family history of neurodegeneration, and approximately 1/3 of familial cases shows an autosomal dominant pattern of inheritance of the phenotype. Over the past two decades, several causative and susceptibility genes for FTLD have been discovered, supporting the notion that genetic factors are important contributors to the disease processes. Genetic variants in three genes, MAPT, GRN and C9orf72, account for about half of familial FTLD cases. In addition, rare defects in the CHMP2B, VCP, TARDBP, SQSTM1, FUS, UBQLN, OPTN, TREM2, CHCHD10 and TBK1 genes have been described. Additional genes are expected to be found in near future.
The purpose of this review is to describe recent advances in the molecular genetics of the FTLD spectrum and to discuss implications for genetic counseling.

Vol. XXXII (No. 2) 2017 April/June

  1. The past and future of Functional Neurology
    D'Angelo E., Boller F., Wheeler-Kingshott C.G., Vanacore N., Sandrini G., Cisari C., Tamburin S., Baricich A.
    doi: 10.11138/FNeur/2017.32.2.061
  2. European core curriculum in neurorehabilitation
    Sandrini G., Binder H., Hömberg V., Saltuari L., Tarkka I., Smania N., Corradini C., Giustini A., Kätterer C., Picari L., Diserens K., Koenig E., Geurts A., Anghelescu A., Opara J., Tonin P., Kwakkel G., Golyk V., Onose G., Pérennou D., Picelli A.
    doi: 10.11138/FNeur/2017.32.2.063
  3. Object decision and multiple sclerosis: a preliminary study
    Caputi N., Matrella A., Totaro R., Raparelli C., Pontecorvo S., Di Giacomo D., Passafiume D.
    doi: 10.11138/FNeur/2017.32.2.069
  4. Cerebellar transcranial static magnetic field stimulation transiently reduces cerebellar brain inhibition
    Matsugi A., Okada Y.
    doi: 10.11138/FNeur/2017.32.2.077
  5. HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family
    Mosca L., Mantero V., Penco S., La Mantia L., De Benedetti S., MArazzi M.R., Spreafico C., Erminio C., Grassi L., Lando G., Zagaria M., Agostoni E., Protti A.
    doi: 10.11138/FNeur/2017.32.2.083
  6. The Italian real-life post-stroke spasticity survey: unmet needs in the management of spasticity with botulinum toxin type A
    Picelli A., Baricich A., Cisari C., Paolucci S., Smania N., Sandrini G.
    doi: 10.11138/FNeur/2017.32.2.089
  7. Sensitivity of multi-shell NODDI to multiple sclerosis white matter changes: a pilot study
    Schneider T., Brownlee W., Zhang H., Ciccarelli O., Miller D.H., Wheeler-Kingshott C.G.
    doi: 10.11138/FNeur/2017.32.2.097
  8. Ixcellence Network®: an international educational network to improve current practice in the management of cervical dystonia or spastic paresis by botulinum toxin injection
    Fheodoroff K., Bhidayasiri R., Jacinto L.J., Chung T.M., Bhatia K., Landreau T., Colosimo C.
    doi: 10.11138/FNeur/2017.32.2.103
Last Viewed articles: la lista degli ultimi x visitati.
  1. Recent advances in the molecular genetics of frontotemporal lobar degeneration
    Rainero I., Rubino E., Michelerio A., D'Agata F., Gentile S., Pinessi L.
    doi: 10.11138/FNeur/2017.32.1.007
credits