Pre-symptomatic diagnosis in ALS
| Autor: | Cécile Cazeneuve, P. Corcia, Patrick Vourc'h, K Mouzat, William Camu, Serge Lumbroso |
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| Přispěvatelé: | Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de Chimie BioOrganique / Université de Nîmes (LCBO), Université de Nîmes (UNIMES), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
DNA Mutational Analysis
MESH: Molecular Diagnostic Techniques Gene mutation medicine.disease_cause Bioinformatics 0302 clinical medicine Gene Frequency C9orf72 MESH: Early Diagnosis Medicine 030212 general & internal medicine Amyotrophic lateral sclerosis MESH: DNA Mutational Analysis MESH: Confidentiality MESH: Amyotrophic Lateral Sclerosis MESH: Genetic Association Studies Mutation medicine.diagnostic_test MESH: Genetic Testing MESH: Genetic Predisposition to Disease 3. Good health Molecular Diagnostic Techniques Neurology MESH: Disclosure MESH: Genetic Counseling Confidentiality Prodromal Symptoms Presymptomatic Genetic Counseling Disclosure MESH: Asymptomatic Diseases TARDBP 03 medical and health sciences Genetic MESH: Gene Frequency Humans Dementia Genetic Predisposition to Disease Genetic Testing MESH: Prodromal Symptoms Genetic Association Studies Genetic testing MESH: Humans business.industry [SCCO.NEUR]Cognitive science/Neuroscience Amyotrophic Lateral Sclerosis [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology Genetic Status medicine.disease Early Diagnosis [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Asymptomatic Diseases Counselling Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Revue Neurologique Revue Neurologique, Elsevier Masson, 2020, 176 (3), pp.166-169. ⟨10.1016/j.neurol.2019.07.027⟩ |
| ISSN: | 0035-3787 |
| DOI: | 10.1016/j.neurol.2019.07.027⟩ |
| Popis: | International audience; Pathophysiology of amyotrophic lateral sclerosis (ALS) remains partially understood even though it is accepted worldwide that motor neuron death results from a pluri-factorial process with a variable role of genetic factors. Although not distinguishable from a clinical point of view, familial forms of ALS (fALS, 10% of cases) and sporadic forms (sALS, 90% of cases) can be described. Since the identification of superoxide dismutase 1 gene (SOD1) mutations, more than 30 genes have been linked to fALS. Among these genes, five (C9ORF72, SOD1, TARDBP, FUS, TBK1) seem predominant with mutation frequencies of 40%, 20%, 5% |
| Databáze: | OpenAIRE |
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