Literature DB >> 25679767

SnapShot: Genetics of ALS and FTD.

Rita Guerreiro1, José Brás1, John Hardy1.   

Abstract

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a spectrum. Clinically, FTD patients present with dementia frequently characterized by behavioral and speech problems. ALS patients exhibit alterations of voluntary movements caused by degeneration of motor neurons. Both syndromes can be present within the same family or even in the same person. The genetic findings for both diseases also support the existence of a continuum, with mutations in the same genes being found in patients with FTD, ALS, or FTD/ALS.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2015        PMID: 25679767     DOI: 10.1016/j.cell.2015.01.052

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  33 in total

1.  Body Mass Index and Amyotrophic Lateral Sclerosis: A Study of US Military Veterans.

Authors:  Daniela Mariosa; John D Beard; David M Umbach; Rino Bellocco; Jean Keller; Tracy L Peters; Kelli D Allen; Weimin Ye; Dale P Sandler; Silke Schmidt; Fang Fang; Freya Kamel
Journal:  Am J Epidemiol       Date:  2017-03-01       Impact factor: 4.897

2.  Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Authors:  Mark T W Ebbert; Christian A Ross; Luc J Pregent; Rebecca J Lank; Cheng Zhang; Rebecca B Katzman; Karen Jansen-West; Yuping Song; Edroaldo Lummertz da Rocha; Carla Palmucci; Pamela Desaro; Amelia E Robertson; Ana M Caputo; Dennis W Dickson; Kevin B Boylan; Rosa Rademakers; Tamas Ordog; Hu Li; Veronique V Belzil
Journal:  Acta Neuropathol       Date:  2017-08-14       Impact factor: 17.088

Review 3.  Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

Authors:  Sumeet Kumar; Navneesh Yadav; Sanjay Pandey; B K Thelma
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

4.  Prion-like protein aggregates exploit the RHO GTPase to cofilin-1 signaling pathway to enter cells.

Authors:  Zhen Zhong; Laura Grasso; Caroline Sibilla; Tim J Stevens; Nicholas Barry; Anne Bertolotti
Journal:  EMBO J       Date:  2018-03-01       Impact factor: 11.598

5.  Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways.

Authors:  Vikram Khurana; Jian Peng; Chee Yeun Chung; Pavan K Auluck; Saranna Fanning; Daniel F Tardiff; Theresa Bartels; Martina Koeva; Stephen W Eichhorn; Hadar Benyamini; Yali Lou; Andy Nutter-Upham; Valeriya Baru; Yelena Freyzon; Nurcan Tuncbag; Michael Costanzo; Bryan-Joseph San Luis; David C Schöndorf; M Inmaculada Barrasa; Sepehr Ehsani; Neville Sanjana; Quan Zhong; Thomas Gasser; David P Bartel; Marc Vidal; Michela Deleidi; Charles Boone; Ernest Fraenkel; Bonnie Berger; Susan Lindquist
Journal:  Cell Syst       Date:  2017-01-25       Impact factor: 10.304

6.  Neurodegeneration in C. elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neurons.

Authors:  Julie Vérièpe; Lucresse Fossouo; J Alex Parker
Journal:  Nat Commun       Date:  2015-06-10       Impact factor: 14.919

7.  OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Authors:  Orly Goldstein; Omri Nayshool; Beatrice Nefussy; Bryan J Traynor; Alan E Renton; Mali Gana-Weisz; Vivian E Drory; Avi Orr-Urtreger
Journal:  Neurology       Date:  2016-01-06       Impact factor: 9.910

8.  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 9.  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 10.  Exploring the genetics and non-cell autonomous mechanisms underlying ALS/FTLD.

Authors:  Hongbo Chen; Mark W Kankel; Susan C Su; Steve W S Han; Dimitry Ofengeim
Journal:  Cell Death Differ       Date:  2018-02-19       Impact factor: 15.828

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