Search results for "familial amyotrophic lateral sclerosis"

showing 2 items of 2 documents

Acute onset of bulbar amyotrophic lateral sclerosis after flu – look at the differential diagnosis: A case report

2018

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiology of sALS remains unclear although a gene–environment interaction has been proposed as a concomitant trigger for the neurodegenerative process together with viral infections, smoking, heavy metals and pesticide exposure. Herein, we report the case of a 67-year-old woman who experienced an acute onset of bulbar ALS with an atypical clinical cours…

0301 basic medicinePathologymedicine.medical_specialtyMedicine (General)DiseaseCase Reportsacute onsetBiochemistryDiagnosis Differential03 medical and health sciences0302 clinical medicineAtrophyR5-920Swallowingsporadic amyotrophic lateral sclerosisDiagnosisdifferential diagnosisInfluenza HumanMedicineHumansAmyotrophic lateral sclerosisAgedbulbar amyotrophic lateral sclerosisbusiness.industryBiochemistry (medical)Amyotrophic Lateral SclerosisMuscle weaknessCell BiologyGeneral Medicinemedicine.diseaseTrunkInfluenza030104 developmental biologyDifferentialAcute DiseaseEtiologyFamilial amyotrophic lateral sclerosisFemaleacute onset; bulbar amyotrophic lateral sclerosis; differential diagnosis; Familial amyotrophic lateral sclerosis; sporadic amyotrophic lateral sclerosis; Acute Disease; Aged; Amyotrophic Lateral Sclerosis; Diagnosis Differential; Female; Humans; Influenza HumanDifferential diagnosismedicine.symptombusiness030217 neurology & neurosurgeryHumanJournal of International Medical Research
researchProduct

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

2013

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.

MaleAged Aged; 80 and over Amyotrophic Lateral Sclerosis; genetics/pathology Computational Biology DNA Mutational Analysis DNA-Binding Proteins; metabolism Family Health Female Genetic Predisposition to Disease; genetics Genotype Humans Male Middle Aged Muscle; Skeletal; metabolism/pathology Mutation; genetics Neurologic Examination Nuclear Matrix-Associated Proteins; genetics/metabolism RNA-Binding Proteins; genetics/metabolism Spinal Cord; metabolism/pathologyDNA Mutational Analysisgenetics/metabolismRNA-binding proteinSettore MED/03 - GENETICA MEDICAmedicine.disease_cause0302 clinical medicineNuclear Matrix-Associated ProteinsGenotype80 and overgeneticsAmyotrophic lateral sclerosisExome sequencingGeneticsAged 80 and overNeurologic Examination0303 health sciencesMutationGeneral NeuroscienceRNA-Binding ProteinsSkeletalMiddle AgedDNA-Binding ProteinsMATR3medicine.anatomical_structureSpinal Cordfamilial amyotrophic lateral sclerosisMuscleSettore MED/26 - NeurologiaFemaleFrontotemporal dementiametabolism/pathologyGenotypeArticle03 medical and health sciencesgenetics; familial amyotrophic lateral sclerosismental disordersmedicineHumansGenetic Predisposition to DiseaseMuscle Skeletal030304 developmental biologyAgedFamily Healthbusiness.industryAmyotrophic Lateral Sclerosisgenetics/pathologyRNAComputational BiologySpinal cordmedicine.diseaseMutationgeneticbusinessNeurosciencemetabolism030217 neurology & neurosurgery
researchProduct