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Some people have both ALS and frontotemporal dementia (FTD–ALS). The four main genes associated with FTD–ALS are C9orf72, CHCHD10, SQSTM1, and TBK1. [8] C9orf72 repeat expansions explain about 40% of familial ALS and 25% of familial FTD; thus, C9orf72 provides a genetic explanation for most of the overlap between the two diseases. [6]
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]
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.
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Woman, 29, Discovers Through Genetic Testing She Will One Day Develop ALS: 'Don't Really Think It's Hit Me Yet' (Exclusive) Sara Belcher November 19, 2024 at 4:30 AM
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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