Table 1 Clinical phenotypes of patients carrying MAPT exon 1 mutation
Subjects/reference | Age of onset (years, range) | FTD | Motor neuron disease | Parkinsonism | Symptoms of other family members | Ethnicity | Genetic findings |
|---|---|---|---|---|---|---|---|
Hayashi S et al., 2003 [13] | 76 | + (no specific sub-type was described) | – | + PSP | Late-onset dementia | Japanese | c.14G > A (p.R5H) |
Leverenz J et al., 2011 [17] | 72–86 | + (no specific sub-type was described) | – | – | Late-onset dementia | Japanese-American | c.14G > A (p.R5H) (with pathology proof) |
Poorkaj P et al., 2002 [12] | N.A. | – | – | + PSP | N.A. | N.A. | c.14G > T (p.R5L) |
Index patient of the current study | 60 | + (PPA variant of FTD) | – | + CBD | Motor neuron disorder (ALS) | Taiwanese | c.14G > A (p.R5H) |