Amyotrophic lateral sclerosis.

@article{Ludolph2012AmyotrophicLS,
  title={Amyotrophic lateral sclerosis.},
  author={Albert Christian Ludolph and Johannes Brettschneider and Jochen H Weishaupt},
  journal={Current opinion in neurology},
  year={2012},
  volume={25 5},
  pages={
          530-5
        }
}
PURPOSE OF REVIEW The field of amyotrophic lateral sclerosis (ALS) has seen a number of remarkable advances during recent years that will be summarized in this review. RECENT FINDINGS In particular, the progress in the molecular neuropathology with the discovery of pathogenic mutations in TAR DNA binding protein (TARDBP), fused in sarcoma (FUS), ubiquilin2 (UBQLN2) and most recently C9ORF72 (abbreviation for the open reading frame 72 on chromosome 9) has further substantiated the - clinically… 
State of play in amyotrophic lateral sclerosis genetics
TLDR
Current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1 are summarized and how each new genetic discovery is broadening the phenotype associated with the clinical entity the authors know as ALS is outlined.
Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach
TLDR
The complexity of the disease is commented on, some recent findings are suggested, and how amyotrophic lateral sclerosis research might be reoriented to foster the advance in the diagnostic and therapeutic questions are suggested.
Modelling amyotrophic lateral sclerosis: progress and possibilities
TLDR
The different model systems used to study ALS are reviewed and how they have contributed to the current understanding of the etiology and pathology of this neurodegenerative disease are discussed.
Molecular basis of amyotrophic lateral sclerosis
The clinical trial landscape in amyotrophic lateral sclerosis—Past, present, and future
TLDR
This work summarizes and classify interventional therapeutic strategies based on their molecular targets and phenotypic effects in ALS and discusses possible reasons for the failure of clinical trials in ALS.
Amyotrophic lateral sclerosis and the clinical potential of dexpramipexole
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that leads to progressive weakness from loss of motor neurons and death on average in less than 3 years after symptom onset. No
Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
TLDR
This review revisit the major findings of the numerous studies that analyzed global gene expression in tissues and cells from biopsy or post-mortem specimens of ALS patients and related animal models and identified gene expression changes that could be used as candidate biomarkers for the diagnosis and follow-up of ALS.
Natural history and the dawning of a new era for familial ALS
TLDR
The only neuroprotective treatment capable of modifying the disease course is riluzole, a glutamate release inhibitor and sodium channel modulator that provides a modest survival benefit of 3–6 months.
Molecular pathomechanisms of Amyotrophic Lateral Sclerosis caused by FUS mutations
TLDR
A multi-step model where antiviral immune response serves as the "second hit" provoking FUSopathy is proposed, and the presence of endogenous mutant FUS protein in the nucleus causes hyper-assembly of structurally and functionally abnormal paraspeckles - nuclear bodies assembled on the long non-coding RNA called Nuclear Paraspeckle Assembly Transcript 1 (NEAT1).
Treatment implications of C9ORF72
TLDR
Research consortiums incorporating animal models and well-characterized clinical populations will be necessary to fully understand the natural history of the c9FTD/ALS clinical phenotypes and identify biomarkers and therapeutic agents that can cure the most common form of genetically determined FTD and ALS.
...
...