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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Alzheimer Dis Assoc Disord. 2013 Oct-Dec;27(4):10.1097/WAD.0b013e31828cc357. doi: 10.1097/WAD.0b013e31828cc357

Table 1. Patient Characteristics.

Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6 Patient 7 Patient 8 Patient 9
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
  • Diplopia

  • Apathy

  • Memory

  • Word finding

  • Falls

  • Pseudobulbar affect

  • Masked facies

  • reduced vertical saccade velocity and increased latency

  • LUE dystonia

  • L>R parkinsonism

  • personality changes

  • falls

  • gait change

  • executive symptoms

  • reduced vertical saccade velocity

  • hypomimia

  • dysarthria

  • axial rigidity

  • L>R parkinsonism

  • Apathy

  • Hyperorality

  • Repetitive movement

  • Hypomimia

  • Axial rigidity

  • Diminished L arm swing

  • BUE tremor

  • Naming difficulty

  • Stuttering

  • Apraxia of speech

  • Reduced blinking

  • Word-finding

  • Reading

  • language comprehension

  • disinhibition

  • Apraxia of speech

  • LUE postural tremor

  • Arms dystonic

  • Memory

  • problem solving

  • apraxia L>R

  • Increased saccade latency

  • Limb myoclonus

  • LUE dystonia and tremor

  • L Babinski

  • Diplopia

  • visual misperceptions

  • Word finding

  • executive symptoms

  • memory

  • hypomimia

  • apraxia of speech

  • Increased saccade latency

  • Axial/bilateral UE rigidity

  • LUE dystonia and weakness

  • Memory

  • Suspicious

  • LUE cogwheel rigidity and postural tremor

  • Right hand tremor when writing

  • Memory

  • BUE tremor

Family History
  • Brother: OCD/schizophrenia

  • Brother: epilepsy

  • Mother, 5 maternal aunts: psychiatric degenerative disease

  • Maternal aunt and uncle: dementia

  • Brother: ALS

  • Brother: stuttering

  • Paternal uncle and maternal grandmother: PD

  • Paternal: alcoholism, psychiatric disease

  • Father: dementia

  • Brother: dementia (multiple concussions)

  • Mother: died at 30

  • Father died at 45

  • Brother died at 65 from myocardial infarction.

  • Paternal aunt: dementia

CSF laboratory tests (pg/mL)* -
  • Abeta42: 383

  • Total tau: 287

  • Phospho-tau: 41

  • ATI: 0.66

  • Inconclusive for AD

- - - -
  • Abeta 42: 139

  • Total tau: 887

  • Phospho-tau: 89

  • ATI: 0.11

  • Consistent w/AD

- -
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.