Table 1. Patient Characteristics.
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
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Clinical Diagnosis | PSP | PSP, elements of bvFTD | bvFTD | nfvPPA | nfvPPA, elements of PSP | CBS | CBS, elements of nfvPPA | AD | AD |
Age at Onset/Sex | 48F | 60 F | 67 M | 69 F | 53 M | 64 M | 62 M | 75 M | 79 F |
Clinical Symptoms/Signs at Presentation |
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Family History |
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CSF laboratory tests (pg/mL)* | - |
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- | - | - | - |
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- | - |
Genetic Testing(MAPT/APOE)** | MAPT H1/H1 Apo E3/E3 | MAPT H1/H2 Apo E3/E3 | MAPT H1/H1 Apo E2/E3 | MAPT H1/H2 Apo E3/E3 | MAPT H1/H1 Apo E3/E3 | MAPT H1/H1 Apo E3/E3 | MAPT H1/H1 Apo E4/E2 | MAPT H1/H1 Apo E3/E3 | MAPT H1/H1 Apo E3/E3 |
Abbreviations: AD=Alzheimer's disease. ApoE=apolipoprotein E. ATI=amyloid-tau index. BUE=bilateral upper extremity. bvFTD=behavioral variant frontotemporal dementia. CBS=corticobasal syndrome. CSF= cerebrospinal fluid. DTR=deep tendon reflexes. MAPT=microtubule associated protein tau. L=left. LUE=left upper extremity. LLE=left lower extremity. nfvPPA= nonfluent variant primary progressive aphasia. OCD=obsessive-compulsive disorder. PD=Parkinson's disease. PSP=progressive supranuclear palsy. R=right.
normal reference ranges are: Phospho-tau < 61 pg/mL, ATI= Abeta42/(240 +1.18 total tau). ATI < 1 is consistent with AD. ATI > 1 for non-AD.
All 9 subjects tested negative for MAPT, GRN, and C9ORF72 mutations.