Literature DB >> 25869998

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Serena Lattante1, Sorana Ciura2, Guy A Rouleau3, Edor Kabashi4.   

Abstract

Several genetic causes have been recently described for neurological diseases, increasing our knowledge of the common pathological mechanisms involved in these disorders. Mutation analysis has shown common causative factors for two major neurodegenerative disorders, ALS and FTD. Shared pathological and genetic markers as well as common neurological signs between these diseases have given rise to the notion of an ALS/FTD spectrum. This overlap among genetic factors causing ALS/FTD and the coincidence of mutated alleles (including causative, risk and modifier variants) have given rise to the notion of an oligogenic model of disease. In this review we summarize major advances in the elucidation of novel genetic factors in these diseases which have led to a better understanding of the common pathogenic factors leading to neurodegeneration.
Copyright © 2015 Elsevier Ltd. All rights reserved.

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Year:  2015        PMID: 25869998     DOI: 10.1016/j.tig.2015.03.005

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  45 in total

1.  The Study of Language in the Amyotrophic Lateral Sclerosis - Frontotemporal Spectrum Disorder: a Systematic Review of Findings and New Perspectives.

Authors:  Marta Pinto-Grau; Orla Hardiman; Niall Pender
Journal:  Neuropsychol Rev       Date:  2018-04-28       Impact factor: 7.444

2.  Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

Authors:  Chantal Sellier; Maria-Letizia Campanari; Camille Julie Corbier; Angeline Gaucherot; Isabelle Kolb-Cheynel; Mustapha Oulad-Abdelghani; Frank Ruffenach; Adeline Page; Sorana Ciura; Edor Kabashi; Nicolas Charlet-Berguerand
Journal:  EMBO J       Date:  2016-04-21       Impact factor: 11.598

3.  Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Authors:  Maria Pia Giannoccaro; Anna Bartoletti-Stella; Silvia Piras; Annalisa Pession; Patrizia De Massis; Federico Oppi; Michelangelo Stanzani-Maserati; Elena Pasini; Simone Baiardi; Patrizia Avoni; Piero Parchi; Rocco Liguori; Sabina Capellari
Journal:  J Neurol       Date:  2017-06-15       Impact factor: 4.849

Review 4.  The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.

Authors:  Jochen Walter
Journal:  J Biol Chem       Date:  2015-12-22       Impact factor: 5.157

5.  Structural explanation of poor prognosis of amyotrophic lateral sclerosis in the non-demented state.

Authors:  H-J Kim; S-I Oh; M de Leon; X Wang; K-W Oh; J-S Park; A Deshpande; M Buj; S H Kim
Journal:  Eur J Neurol       Date:  2016-10-18       Impact factor: 6.089

Review 6.  The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.

Authors:  Christopher S Krasniak; S Tariq Ahmad
Journal:  Brain Res       Date:  2016-03-10       Impact factor: 3.252

7.  Telephone based cognitive-behavioral screening for frontotemporal changes in patients with amyotrophic lateral sclerosis (ALS).

Authors:  Georgia Christodoulou; Chris Gennings; Jonathan Hupf; Pam Factor-Litvak; Jennifer Murphy; Raymond R Goetz; Hiroshi Mitsumoto
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2016-04-28       Impact factor: 4.092

Review 8.  Key emerging issues in frontotemporal dementia.

Authors:  Sarah A A Hopkins; Dennis Chan
Journal:  J Neurol       Date:  2015-09-04       Impact factor: 4.849

Review 9.  Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.

Authors:  Xinmei Wen; Thomas Westergard; Piera Pasinelli; Davide Trotti
Journal:  Neurosci Lett       Date:  2016-09-13       Impact factor: 3.046

Review 10.  Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD.

Authors:  Claudia Fallini; Bilal Khalil; Courtney L Smith; Wilfried Rossoll
Journal:  Neurobiol Dis       Date:  2020-03-14       Impact factor: 5.996

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