We are analyzing https://link.springer.com/article/10.1007/s00401-012-1022-4.

Title:
The genetics and neuropathology of amyotrophic lateral sclerosis | Acta Neuropathologica
Description:
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons leading to death from respiratory failure within about 3 years of symptom onset. A family history of ALS is obtained in about 5 % but the distinction between familial and apparently sporadic ALS is artificial and genetic factors play a role in all types. For several years, only one gene was known to have a role in ALS pathogenesis, SOD1. In the last few years there has been a rapid advance in our genetic knowledge of the causes of ALS, and the relationship of the genetic subtypes with pathological subtypes and clinical phenotype. Mutations in the gene for TDP-43 protein, TARDBP, highlight this, with pathology mimicking closely that found in other types of ALS, and a phenotypic spectrum that includes frontotemporal dementia. Mutations in the FUS gene, closely related to TDP-43, lead to a similar clinical phenotype but distinct pathology, so that the three pathological groups represented by SOD1, TARDBP, and FUS are distinct. In this review, we explore the genetic architecture of ALS, highlight some of the genes implicated in pathogenesis, and describe their phenotypic range and overlap with other diseases.
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google, scholar, article, pubmed, cas, lateral, amyotrophic, sclerosis, neurol, familial, gene, mutations, genet, sporadic, van, mutation, tdp, motor, neurology, frontotemporal, fus, neuron, nat, disease, sod, neuropathol, dois, alchalabi, genetic, clinical, study, protein, dementia, hum, neurobiol, inclusions, chromosome, repeat, aging, brain, acta, association, analysis, troakes, patients, ann, dismutase, nature, doijneurobiolaging, sci,

Topics {✒️}

/neuro/journal/v13/n11/abs/nn /emboj/journal/v29/n16/suppinfo/emboj2010143a_s1 /neuro/journal/v10/n5/suppinfo/nn1876_s1 /nrn/journal/v7/n9/suppinfo/nrn1971_s1 /nature/journal/v466/n7310/abs/nature09320 /nature/journal/v465/n7295/suppinfo/nature08971_s1 /ng/journal/v40/n5/suppinfo/ng month download article/chapter chromosome 9p21-linked als-ftd chromosome 9p-linked ftd fus/tls-related gene ewsr1 dominant x-linked juvenile ataxin-2 intermediate-length polyglutamine c9orf72-linked ftld d-amino acid oxidase genome-wide association study ftld-als spectrum disorders ataxin-2 repeat-length variation ubiquitin-immunoreactive intraneuronal inclusions van den berg ubqln2/ubiquilin 2 mutation population-based cohort study vesicle-trafficking protein vapb full article pdf motor neuron disease familial frontotemporal dementia ftld-tdp cases article al-chalabi genetic factors play amyotrophic lateral sclerosis amyotrophic lateral sclerosis motor neuron degeneration landers je mutant sod1 share zn superoxide dismutase includes frontotemporal dementia c9orf72 repeat expansion frontotemporal lobar degeneration privacy choices/manage cookies sod1 gene mutation amyotrophic lateral scelaries fus/tls gene related cellular consequences cuzn-superoxide dismutase ataxin-2 polyq expansions deng hx van vught pw van der zee population-based study population based study

Questions {❓}

Andersen PM, Al-Chalabi A (2011) Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

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         description:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons leading to death from respiratory failure within about 3 years of symptom onset. A family history of ALS is obtained in about 5 % but the distinction between familial and apparently sporadic ALS is artificial and genetic factors play a role in all types. For several years, only one gene was known to have a role in ALS pathogenesis, SOD1. In the last few years there has been a rapid advance in our genetic knowledge of the causes of ALS, and the relationship of the genetic subtypes with pathological subtypes and clinical phenotype. Mutations in the gene for TDP-43 protein, TARDBP, highlight this, with pathology mimicking closely that found in other types of ALS, and a phenotypic spectrum that includes frontotemporal dementia. Mutations in the FUS gene, closely related to TDP-43, lead to a similar clinical phenotype but distinct pathology, so that the three pathological groups represented by SOD1, TARDBP, and FUS are distinct. In this review, we explore the genetic architecture of ALS, highlight some of the genes implicated in pathogenesis, and describe their phenotypic range and overlap with other diseases.
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