title: Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease.
abstract: Frontotemporal dementia (FTD) is the second most common degenerative dementia after Alzheimer's disease and its Lewy body variant. Clinical pathology can be subdivided in three main neuropathological subtypes: frontal lobe dementia, Pick's disease and FTD with motor neuron disease (MND), all characterised by distinct histological features. Until recently the presence of ubiquitin-positive intraneuronal inclusions in the dentate gyrus, and the temporal and frontal cortex was usually associated with the MND type. Such inclusions were also observed in a few sporadic cases of FTD without or with parkinsonism (FTDP) in the absence of MND. We present here clinical, neuropathological and immunohistochemical data about a Swiss FTD family with FTDP-like features but without MND. Spongiosis and mild gliosis were observed in the grey matter. No neurofibrillary tangles, Pick bodies, Lewy bodies, senile plaques or prion-positive signals were present. However, ubiquitin-positive intracytoplasmic inclusions were detected in various structures but predominantly in the dentate gyrus. These observations support the existence of a familial form of FTDP with ubiquitin-positive intracytoplasmic inclusions (Swiss FTDP family).
authors.affiliation: Department of Psychiatry, University of Geneva School of Medicine, Switzerland. eniko.kovari@hcuge.ch
authors.forename: E
authors.initials: E
authors.lastname: Kövari
authors.forename: G
authors.initials: G
authors.lastname: Leuba
authors.forename: A
authors.initials: A
authors.lastname: Savioz
authors.forename: K
authors.initials: K
authors.lastname: Saini
authors.forename: R
authors.initials: R
authors.lastname: Anastasiu
authors.forename: J
authors.initials: J
authors.lastname: Miklossy
authors.forename: C
authors.initials: C
authors.lastname: Bouras
mesh_terms: D000368:Aged; D003704:Dementia / Q000235:genetics / Q000473:pathology*; D018891:Dentate Gyrus / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D005911:Gliosis / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000737:chemistry*; D008297:Male; D009046:Motor Neurons / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000032:analysis*; D010375:Pedigree; D013557:Switzerland; D013577:Syndrome; D014452:Ubiquitins / Q000032:analysis*
chemical_list: D009419:Nerve Tissue Proteins; D014452:Ubiquitins