Molecular basis of amyotrophic lateral sclerosis

Progress in Neuro-psychopharmacology & Biological Psychiatry
Rajka M Liscic, Davorka Breljak

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal disorder of motor neuron degeneration with unclear etiology and no effective treatment to date. ALS is, however, increasingly recognized as a multisystem disorder associated with impaired cognition. The overlap between ALS and dementia at clinical, genetic and neuropathologic levels indicates a spectrum of clinical phenotypes that may include features of frontotemporal lobar degeneration (FTLD). Most cases of ALS are sporadic (SALS), but approximately 10% of all ALS cases are familial ALS (FALS). Mutations in the Cu/Zn superoxide dismutase-1 gene (SOD-1) occur in about 20% of FALS cases. Mutations in the TAR DNA-binding protein 43 gene (TARDBP or TDP-43) may occur in 3-4% of FALS cases, and less frequently, in FTLD. Recently, mutations in the fused in sarcoma/translation in liposarcoma gene (FUS/TLS) were identified as causing about 4-5% of FALS, SALS, and FTLD cases, but not SOD-1 ALS cases, indicating a pathogenic role of FUS, together with TDP-43, in possibly all types of ALS, except for SOD-1 linked ALS. TDP-43 and FUS have striking structural and functional similarities, most likely implicating altered RNA processing as a major event in ALS pathogenesis. Thus, TARDBP and FUS/T...Continue Reading

References

Jul 1, 1994·Journal of the Neurological Sciences·J Lowe
Feb 26, 2000·Neuropsychologia·S AbrahamsL H Goldstein
Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·B R BrooksUNKNOWN World Federation of Neurology Research Group on Motor Neuron Diseases
Oct 9, 2002·Neurology·Catherine Lomen-HoerthBruce Miller
Aug 13, 2003·Neurology·J R HodgesG Halliday
Feb 14, 2006·Current Neurology and Neuroscience Reports·Peter M Andersen
Aug 23, 2006·Nature Reviews. Neuroscience·Piera Pasinelli, Robert H Brown
Apr 11, 2007·Archives of Neurology·Jennifer M MurphyCatherine Lomen-Hoerth
Feb 22, 2008·Annals of Neurology·Michael A GitchoNigel J Cairns
Mar 1, 2008·Science·Jemeen SreedharanChristopher E Shaw
Aug 8, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·R M LiscicN J Cairns
Mar 24, 2009·Cell·Clotilde Lagier-Tourenne, Don W Cleveland
May 23, 2009·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Michael J StrongDenise Figlewicz
Aug 14, 2009·Brain : a Journal of Neurology·Manuela NeumannIan R A Mackenzie
Oct 17, 2009·Proceedings of the National Academy of Sciences of the United States of America·Iga WegorzewskaRobert H Baloh
Oct 29, 2009·Journal of Medical Genetics·Lucia CorradoVincenzo Silani
Feb 4, 2010·Neurology·Nigel J Cairns, Nupur Ghoshal
Feb 4, 2010·Neurology·T Van LangenhoveC Van Broeckhoven
Feb 6, 2010·Proceedings of the National Academy of Sciences of the United States of America·Hans WilsSamir Kumar-Singh
Feb 9, 2010·Neurobiology of Aging·Shiao-Lin LaiBryan J Traynor

❮ Previous
Next ❯

Citations

Aug 14, 2012·Neural Plasticity·Hansen Wang, Laurie C Doering
Jan 12, 2016·Arhiv za higijenu rada i toksikologiju·Rajka M Liščić
Jan 6, 2015·Neuropathology and Applied Neurobiology·Mark Halliday, Giovanna R Mallucci
Mar 6, 2019·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Alfredo IacoangeliAmmar Al-Chalabi
Feb 4, 2014·Muscle & Nerve·Katarzyna KryściakJan Celichowski
Jun 4, 2020·Molecular Neurodegeneration·Rajka Maria LiscicEmanuele Buratti
Sep 17, 2019·Journal of Parkinson's Disease·Makoto HashimotoEliezer Masliah
Nov 5, 2020·Journal of Neurosciences in Rural Practice·Shweta ModgilAkshay Anand

❮ Previous
Next ❯

Related Concepts

Related Feeds

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating genetic alterations in this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.