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Associated with 3-5% of ALS cases; considered an ALS risk gene rather than a causative gene as of 2018. [1] ALS25: 617921: KIF5A: 12q13.3 autosomal dominant 2018 FTD-ALS1: 105550: C9orf72: 9p21.2 autosomal dominant 2011 The gene most commonly associated with ALS, C9orf72 accounts for 40% of fALS cases and 7% of sALS cases. [2] FTD-ALS2: 615911 ...
The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. [63] The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. [124]
Familial ALS is the most studied; however, a new technique that was recently introduced is the use of induced pluripotent stem cells (iPSC). [2] In this study the researcher can isolate skin fibroblast from a patient with familial or sporadic ALS and reprogram them into motor neuron to study ALS. [2]
According to the ALS Therapy Development Institute, only about 15% of all ALS diagnoses are hereditary, but those who have the gene have a 50% chance of passing it on to their children.
Articles relating to amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease. It is a specific disease which causes the death of neurons controlling voluntary muscles. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size.
This includes amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
74018 Ensembl ENSG00000003393 ENSMUSG00000026024 UniProt Q96Q42 Q920R0 RefSeq (mRNA) NM_001135745 NM_020919 NM_001159948 NM_028717 NM_146109 RefSeq (protein) NP_001129217 NP_065970 NP_001153420 NP_082993 NP_666221 Location (UCSC) Chr 2: 201.7 – 201.78 Mb Chr 1: 59.2 – 59.28 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alsin is a protein that in humans is encoded by the ALS2 ...
The institute has raised and spent more than $100 million on research into effective treatments for ALS and practices open-source science. [19] After the discovery that the multiple sclerosis drug Gilenya might also be a treatment for ALS, the Institute enrolled 30 people in a Phase 2A clinical trial the drug in 2013, though it did not progress further.
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