The role of neuropsychological assessment in the detection of early symptoms in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Frontotemporal dementia and parkinsonism linked to chromosome 17 is a rare variant of frontotemporal dementia, characterized by behavioral, cognitive and motor dysfunctions. The onset of the disease is variable. However, cognitive and behavioral changes usually precede motor symptoms. Early abnormalities can be identified by means of smell tests, motor speech assessment and neuropsychological evaluation. We provide a clinical description of a 48-year-old man with a P301L MAPT mutation, who presented with subtle neuropsychological deficits and depression, without behavioral or motor changes when diagnosed with FTDP-17. The results of two neuropsychological assessments (baseline and followup) are presented, addressing both global and specific cognitive functions. The results showed early phonemic fluency deficits, followed by language and procedural memory impairment. In addition, the qualitative analysis of the Rey/ Taylor Complex Figure Test and picture description trials (both oral and written) provided further evidence for cognitive dysfunction in this patient. Early verbal fluency deterioration, possibly linked to both executive dysfunction and language breakdown, is consistent with previous reports. Our data suggests that a comprehensive neuropsychological assessment in individuals with FTDP-17 is highly recommended and should include both quantitative and qualitative measures.