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Table 4 Systematic review of descriptions of MAPT R406W patients

From: Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review

References No. of subjects Sex AoOa, years Dura, years Diagnosisb APOE Early memory loss (n) Early BS (n) Visuospatial impairment (n) Language impairment (n) BS (n) Psychiatric symptoms (n) Parkinsonism (n) Other (n)
[10] 10 7 M, 3 F 54 25 N/R N/R 7 1 1 1 Aggression 1, Poor judgment and drifting 1 Alcoholism 2 BK, rigidityc, action T and mild rest T (arms) 1 No vertical gaze, hypometric saccades, PR 1
[19, 33, 45] 5 1 M, 4 F 57 13 N/R ε3/ε4 1 3 3 “Mostly intact” 3 Para, pers, flu, mutism 2 N/R N/R N/R N/R
[11] 6d N/R 58 11 EOAD 4, MCI-EOAD 1 ε3/ε3 3, ε3/ε4 2 4 1 5 5 Withdrawal and adapting difficulties 1, Dis 1 Depr and anxiety 1, emotional shallowness 2 Rigidity, cogwheeling 4, T 3, BK 1, gait disturbance 1, total Parkinsonism 4 Dysphagia 1, PR 1
[42, 47] 5 3 M, 2 F 56 23 N/R N/R 5 4 Normal Word comprehension 3, stereotypies 3, flu 3, mutism 1 Dietary change 4, dis 2, stereotypies 2, childish 2 Restlessness 3, depr 1, anxiety 1, suspiciousness 2, emotional shallowness 4 No N/R
[4] 3 0 M, 3 F 65 N/R AD 2, MCI 1 ε3/ε2 1, ε3/ε3 1, ε3/ε4 1 3 N/R N/R N/R 2 N/R N/R N/R
[14, 48] 8ff 5 M, 2 F e e AD 1 N/R N/R 1f N/R Anomia 2f, para 1, comp, flu phonemic and semantic errors impaired word finding, poor spelling and aphasia 1e Apathy 1f N/R 1f N/R
[3] 1 0 M, 1 F 56 N/R N/R N/R 1 1 1 N/R Dis and apathy N/R Rest T (R), postural T (bilat), mild BK (L < R), mild rigidity (L < R), and mild dystonia N/R
[49] 1 1 M, 0 F 50 N/R N/R ε3/ε3 1 N/R N/R N/R N/R N/R N/R N/R
[44] 1 1 M, 0 F 66 N/R N/R N/R 1 N/R N/R N/R N/R N/R N/R No
[35] 1 0 M, 1 F 54 13 Dementia NOS ε3/ε3 N/R N/R N/R N/R N/R N/R N/R N/R
[43, 50, 51] 6 2 M, 4 F 52.5 N/R EOAD 2, familial AD 1 ε3/ε2 2, ε3/ε3 2, ε3/ε4 2 6 1 N/R N/R Loss of interest 1, dis 2, mild 1 Disorientation 1 No 6 N/R
[46] 1 1 M, 0 F 47 6 Schizophrenia, primary degenerative dementia ε3/ε3 N/R No N/R N/R Self-neglect Pdel diminished appetite and severe confusion N/R N/R
[6] 1 1 M, 0 F 59 14 AD N/R 1 No N/R Sensory aphasia Violent, angry, aimless walking, stereotypic Apraxia, delusional mistakes No N/R
[12] 2 1 M, 1 F 56.5 N/R MCI 1, AD 1 N/R 2 N/R N/R N/R N/R N/R N/R N/R
[52] 6 N/R 57.5 11,5 AD 2, dementia NOS 1 N/R 6 N/R N/R 5 5 N/R N/R N/R
[13] 5f N/R 60–70e N/R AD 2 ε3/ε3 1f N/R 1f Prosopagnosia 1f Word finding, comprehension and speech output 1f Dietary change, argumentative, and dis 1f Deprg, Pdel, hyperreligiosity, compulsory routines, hoarding & Irritability 1f Masked faces and mild BK 1f, total Parkinsonism: 4f Slow saccades and square wave jerksf
[17] 3 1 M, 2 F 54 13 N/R N/R N/R 2 Prosopagnosia 2 Dysnomia 2, repetitive 1 Dietary change 2, stereotypies 1 N/R No N/R
[53] 1 1 M, 0 F 38 26 BvFTD N/R N/R N/R N/R N/R N/R Obsessive, hoarding N/R N/R
Summary 66d,fff 25 M, 23 F 55 (IQR 51.25–59.75) 13 (IQR 11–21) AD 17, any 23 Any ε4 5 39 13h 6 20h 26h 13 9h 3
  1. AoO Median age of onset of individuals reported, Dur Duration of disease, BS Behavioral symptoms, AD Alzheimer’s disease, EO Early onset, MCI Mild cognitive impairment, Dementia NOS Dementia not otherwise specified, BvFTD Behavioral variant frontotemporal dementia, APOE Apolipoprotein E genotype, Depr Depression, Dis Disinhibition, ADL Activities of daily living, Para Paraphasias, Pdel Paranoid delusions, Pers Perseverations, PR Primitive reflexes (e.g., snout, grasp, rooting or palmomental), Flu Reduced verbal fluency or output, Comp Compulsive repetition of words, BK Bradykinesia, T Tremor
  2. aReported as median of individual cases
  3. bClinical diagnosis/diagnosis prior to genetic testing
  4. cPossible pharmacological cause (neuroleptics)
  5. dIncluding one R406W carrier with subjective memory deficit
  6. eUnsatisfactorily reported to be added to summary
  7. fEach superscript letter f indicates one confirmed MAPT R406W homozygote
  8. gReported prior to onset of cognitive impairment
  9. hSummary of status of MAPT R406W heterozygotes but not homozygotes