Clinical and neuropathological features of ALS/FTD with TIA1 mutations
Hirsch-Reinshagen V, Pottier C, Nicholson A, Baker M, Hsiung G, Krieger C, Sengdy P, Boylan K, Dickson D, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic S, Lacomis D, Taylor J, Rademakers R, Mackenzie I. Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Acta Neuropathologica Communications 2017, 5: 96. PMID: 29216908, PMCID: PMC5719900, DOI: 10.1186/s40478-017-0493-x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAmyotrophic Lateral SclerosisAutopsyC9orf72 ProteinDNA-Binding ProteinsFamily HealthFemaleFrontotemporal DementiaHumansMaleMiddle AgedMutationNeuropathologyT-Cell Intracellular Antigen-1ConceptsT-cell-restricted intracellular antigen 1Frontotemporal dementiaTDP-43TDP-43 pathologyAmyotrophic lateral sclerosisLanguage impairmentMotor neuronsPattern of neurodegenerationPsychiatric featuresSporadic ALSFrontotemporal lobar degenerationPyramidal motor systemTDP-43 proteinopathyDiagnosis of amyotrophic lateral sclerosisSporadic amyotrophic lateral sclerosisCaudate atrophyFeatures of amyotrophic lateral sclerosisRepeat expansionRestriction patternsInitial presentationMotor systemMutation carriersFocal weaknessDisease durationClinical phenotypeTIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 2017, 95: 808-816.e9. PMID: 28817800, PMCID: PMC5576574, DOI: 10.1016/j.neuron.2017.07.025.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAmyotrophic Lateral SclerosisDNA-Binding ProteinsFamily HealthFemaleFrontotemporal DementiaGreen Fluorescent ProteinsHeLa CellsHeterogeneous Nuclear Ribonucleoprotein A1Heterogeneous-Nuclear Ribonucleoprotein Group A-BHumansMaleMicroscopy, ConfocalMiddle AgedMutationPoly(A)-Binding ProteinsRNA-Binding Protein FUSStress, PhysiologicalT-Cell Intracellular Antigen-1Time FactorsTransfectionConceptsAmyotrophic lateral sclerosisTIA1 mutationsFrontotemporal dementiaLateral sclerosisTDP-43Age-related neurodegenerative disordersALS/FTD pathogenesisALS/frontotemporal dementiaIntracellular antigen-1ALS patientsPathological featuresProtein 43Mutation carriersPostmortem neuropathologyTAR DNANeurodegenerative disordersAntigen 1Positive inclusionsFTD pathogenesisPathological signatureFTD familiesGenetic etiologySclerosisStress granule dynamicsStress granules