title: Fronto-temporal lobar degeneration: neuropathology in 60 cases.
abstract: Sixty cases of frontotemporal lobar degeneration (FTLD) were collected over 22 years. Brain weight was negatively correlated with disease duration. The neuronal and/or glial inclusions were labeled by anti-TDP, anti-FUS or anti-TAU antibodies, respectively, in 40, 3 and 12 cases. In the FTLD-TDP group, mutation of the progranulin gene was found in four cases (FTD-GRN), with nuclear, cat eye inclusions and severe neuronal loss in CA1 and subiculum. The motor neurons were involved in 27 cases (fronto-temporal dementia with amyotrophic lateral sclerosis = FTD-ALS). Familial FTD-ALS cases lived longer than sporadic ones. In nine cases, there was no ALS, no GRN mutation (FTD-NAP). The cases in the FTD-ALS and FTD-NAP subgroups were of Sampathu type 2 (TDP-positive inclusions located mostly in cell bodies and short neurites) with the exception of five cases which belonged to type 1 (long TDP-positive neurites in the superficial layers of the cortex). All of the FTLD-FUS of this series cases were affected by neuronal intermediate filament inclusion disease (NIFID). They were young. The survival was short. In the FTLD-tau group, mutations P301P (previously not recognized as pathogenic), P301L and S305N were identified. Pick disease (n = 5) appeared as a homogeneous sporadic disorder. The current nomenclature allows the neuropathological classification of nearly all the cases of FTD. The prevalence of the different types of FTD is tightly linked to the recruitment. This series was enriched in motor neuron disease (explaining the overall predominance of type 2 TDP inclusions).
authors.affiliation: Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Groupe Hospitalier Pitié-Salpêtrière, AP-HP and UPMC-Sorbonne Universités, Paris, France.
authors.forename: Danielle
authors.initials: D
authors.lastname: Seilhean
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: Marie
authors.initials: M
authors.lastname: Sarazin
authors.forename: Lucette
authors.initials: L
authors.lastname: Lacomblez
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Millecamps
authors.forename: François
authors.initials: F
authors.lastname: Salachas
authors.forename: Pierre-François
authors.initials: PF
authors.lastname: Pradat
authors.forename: Nadine
authors.initials: N
authors.lastname: Le Forestier
authors.forename: Eric
authors.initials: E
authors.lastname: LeGuern
authors.forename: Bruno
authors.initials: B
authors.lastname: Dubois
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Hauw
authors.forename: Charles
authors.initials: C
authors.lastname: Duyckaerts
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D004268:DNA-Binding Proteins / Q000378:metabolism; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000145:classification / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009929:Organ Size / Q000502:physiology; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D016875:tau Proteins / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D009419:Nerve Tissue Proteins; D016875:tau Proteins