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 ResearchConceptsT-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 phenotype