[New insights in frontotemporal dementia].
Frontotemporal dementia (FTD) is a neurodegenerative disorder characterised by progressive behavioural disturbance, aphasia and a decline in frontal cognitive functions. Frontotemporal atrophy on CT and MRI, and hypoperfusion of the frontal brain regions on single-photon emission computed tomography (SPECT), are characteristic findings. Neuropathological examination reveals deposition of abnormally phosphorylated tau protein in neurons and glial cells in a number of the sporadic and familial cases, while aspecific changes with neuronal loss, spongiosis and gliosis are found in the remaining cases. A familial form with an autosomal dominant pattern of inheritance is seen in 20% of FTD patients. Mutations in the tau gene have been identified in a number of families with deposition of abnormal tau protein in affected brain regions. Presymptomatic DNA testing is now available for relatives of patients with tau mutations, but must only be considered after extensive genetic counselling in a centre with neurogenetic expertise.
Rosso
S M
SM
Afd. Neurologie, Academisch Ziekenhuis Rotterdam-Dijkzigt.
Heutink
P
P
Tibben
A
A
Niermeijer
M F
MF
van Swieten
J C
JC
D003072:Cognition Disorders / Q000175:diagnosis; D003937:Diagnosis, Differential; D005625:Frontal Lobe / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D009483:Neuropsychological Tests; D020774:Pick Disease of the Brain / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D013702:Temporal Lobe / Q000473:pathology*; D015899:Tomography, Emission-Computed, Single-Photon; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins