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Table 1 Clinical and demographic characteristics of TIA1 mutation carriers

From: Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Case Sex Onset (yrs) Death or [Current Age] (yrs) Presenting Symptom Park Psych Final/Current Clinical Diagnoses Family History TIA1 Mutation [19] Post Mortem Exam
aUBCU2-1 F 51 55 limb weakness no no ALS, early bvFTD ALS, FTD, dementia p.P362L yes
aUBCU2-2 F 55 [55] abnormal memory tests no no CSND ALS, FTD, dementia p.P362L n/a
aUBCU2-14 F 28 30 aphasia, behavioral changes no no FTD (PPA), ALS ALS, FTD, dementia, dyslexia p.P362L yes
NWU-1 F 65 68 aphasia no no FTD (PPA), ALS dementia p.M334I yes
TOR-1 F 73 79 aphasia no no FTD (PNFA), ALS cardiovascular disease p.A381T yes
ALS701-1 F 74 76 bulbar weakness no no ALS, aphasia none p.G355R no
ALS458-1 F 63 [64] bulbar weakness no no ALS ALS, Parkinson’s p.V294 M n/a
ALS752-1 F 58 59 bulbar weakness no no ALS none p.V360 M yes
PITT-87 F 64 66 limb weakness no no ALS none p.A381T no
  1. ALS amyotrophic lateral sclerosis, bvFTD behavioral variant FTD, CSND clinically symptomatic not demented, F female, FTD frontotemporal dementia, n/a not applicable, Park parkinsonism, PNFA progressive non-fluent aphasia, PPA primary progressive aphasia, not otherwise specified, Psych psychosis, yrs. years
  2. adenotes members of the same family