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Genomics|Features|ALS

More on Amyotrophic Lateral Sclerosis - May 12, 2015

CDC and Related Info

• National ALS Registry makes a difference
• National Amyotrophic Lateral Sclerosis (ALS) Registry
• Amyotrophic Lateral Sclerosis (ALS) Service Locator App
• Amyotrophic Lateral Sclerosis (ALS) Continuing Education Module
• ATSDR ALS Webinar 
• National ALS Registry podcast
• ALS e-cards
• The National ALS Registry flickr album
• Genes reported in relation to ALS, including genomewide association studies via theHuGE Navigator

CDC information:National ALS Registry makes a difference

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.
Meltz Steinberg K et al. Amyotroph Lateral Scler Frontotemporal Degener 2015 May 11. 1-8

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.
Gonzalez-Perez P et al. Gene 2015 Apr 22.

Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era.
Paez-Colasante X et al. Nat Rev Neurol 2015 May (5) 266-279

Is innate immunity and inflammasomes involved in pathogenesis of amyotrophic lateral sclerosis (ALS)?
Volpe CM et al. Recent Pat Endocr Metab Immune Drug Discov2015 Apr 7.

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill CM et al. Alzheimers Dement 2015 Apr 29.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli ET et al. Science 2015 Mar 27. (6229) 1436-1441

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Steinberg KM et al. Sci Rep 2015 9124

Network analyses reveal novel aspects of ALS pathogenesis.
Sanhueza M et al. PLoS Genet. 2015 Mar (3) e1005107

Psychiatric genetics, neurogenetics, and neurodegeneration.
Kerner B et al. Front Genet 2014 467

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
Sun S et al. Nat Commun 2015 6171

Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.
McLaughlin RL et al. Genomics 2015 Apr (4) 237-41

Amyotrophic Lateral Sclerosis: Genomic Insights - February 23, 2015

SnapShot: Genetics of ALS and FTD.
Guerreiro Rita et al. Cell 2015 Feb 12. (4) 798-798.e1

The distinct genetic pattern of ALS in Turkey and novel mutations.
Özoguz Aslihan et al. Neurobiol. Aging 2015 Jan 10.

Therapeutic development in amyotrophic lateral sclerosis.
Bucchia Monica et al. Clin Ther 2015 Feb 6.

MicroRNAs: Newcomers into the ALS Picture.
Volonté C et al. CNS Neurol Disord Drug Targets 2015 Jan 16.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.
Morgan Sarah et al. Neurobiol. Aging 2014 Dec 20.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.
Vrabec Katarina et al. Neurobiol. Aging 2014 Dec 18.

Application of next-generation sequencing technologies in neurology.
Jiang Teng et al. Ann Transl Med 2014 Dec (12) 125

Genome-wide association studies in neurology.
Tan Meng-Shan et al. Ann Transl Med 2014 Dec (12) 124

A second-generation Irish genome-wide association study for amyotrophic lateral sclerosis.
McLaughlin Russell L et al. Neurobiol. Aging 2015 Feb (2) 1221.e7-1221.e13

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady Janet et al. Ann. Neurol. 2015 Jan (1) 100-13

Amyotrophic lateral sclerosis genetic studies: From genome-wide association mapping to genome sequencing.
He Ji et al. Neuroscientist 2014 Nov 5.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith Bradley N et al. Neuron 2014 Oct 22. (2) 324-31

Amyotrophic Lateral Sclerosis: National Registry, Biorepository and Genetics - August 7, 2014

Prevalence of amyotrophic lateral sclerosis — United States, 2010–2011,  [PDF 575.05 KB]Agency for Toxic Substances and Disease Registry, MMWR, July 25, 2014

National Amyotrophic Lateral Sclerosis (ALS) registry from the Agency for Toxic Substances and Disease Registry

What causes ALS?  Although no cause has been found for most cases of ALS, a number of inherited factors have been found to cause familial ALS

National ALS Biorepository.  Little is known about the role genetics play in ALS. In order to find out more, researchers need biological samples like blood or tissue from persons living with ALS . ATSDR is coordinating a feasibility study to find the best way to collect and store these samples.

Genetics and ALS: Find out more information from the NIH Genetics Home Reference- An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: ALSGene database 
Amyotroph Lateral Scler. 2011 Jul;12(4):238-49.  

Search the ALSGene database for latest genes associated with ALS

Did you know there are 194 genes reported in relation to risk and complications of ALS, including 36 genomewide association studies? To find out more, visit the HuGE Navigator