Phenotypic Variability Within the Inclusion Body Spectrum of Basophilic Inclusion Body Disease and Neuronal Intermediate Filament Inclusion Disease in Frontotemporal Lobar Degenerations With FUS-Positive Inclusions
Por:
Gelpi, E, Llado, A, Clarimon, J, Rey, MJ, Rivera, RM, Ezquerra, M, Antonell, A, Navarro-Otano, J, Ribalta, T, Pinol-Ripoll, G, Perez, A, Valldeoriola, F, Ferrer, I
Publicada:
1 sep 2012
Resumen:
Basophilic inclusion body disease and neuronal intermediate filament inclusion disease (NIFID) are rare diseases included among frontotemporal lobar degenerations with FUS-positive inclusions (FTLD-FUS). We report clinical and pathologic features of 2 new patients and reevaluate neuropathologic characteristics of 2 previously described cases, including an early-onset case of basophilic inclusion body disease (aged 38 years) with a 5-year disease course and abundant FUS-positive inclusion bodies and 3 NIFID cases. One NIFID case (aged 37 years) presented with early-onset psychiatric disturbances and rapidly progressive cognitive decline. Two NIFID cases had later onset (aged 64 years and 70 years) and complex neurologic deficits. Postmortem neuropathologic studies in late-onset NIFID cases disclosed alpha-internexin-positive "hyaline conglomerate"-type inclusions that were positive with 1 commercial anti-FUS antibody directed to residues 200 and 250, but these were negative to amino acids 90 and 220 of human FUS. Early-onset NIFID had similar inclusions that were positive with both commercial anti-FUS antibodies. Genetic testing performed on all cases revealed no FUS gene mutations. These findings indicate that phenotypic variability in NIFID, including clinical manifestations and particular neuropathologic findings, may be related to the age at onset and individual differences in the evolution of lesions.
Filiaciones:
Gelpi, E:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Neurol Tissue Bank, Biobanc, E-08036 Barcelona, Spain
Llado, A:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Inst Clin Neurociencies, Alzheimers Dis & Cognit Disorders Unit,Neurol Ser, E-08036 Barcelona, Spain
Clarimon, J:
St Pau Hosp, Genet Neurodegenerat Disorders Unit IIB, Barcelona, Spain
Ctr Networker Biomed Res Neurodegenerat Dis CIBER, Madrid, Spain
Rey, MJ:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Neurol Tissue Bank, Biobanc, E-08036 Barcelona, Spain
Rivera, RM:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Neurol Tissue Bank, Biobanc, E-08036 Barcelona, Spain
Ezquerra, M:
Hosp Clin Barcelona, Inst Clin Neurociencies, Neurol Serv, Movement Disorders Unit, E-08036 Barcelona, Spain
Antonell, A:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Inst Clin Neurociencies, Alzheimers Dis & Cognit Disorders Unit,Neurol Ser, E-08036 Barcelona, Spain
Navarro-Otano, J:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Neurol Tissue Bank, Biobanc, E-08036 Barcelona, Spain
Hosp Clin Barcelona, Inst Clin Neurociencies, Neurol Serv, Movement Disorders Unit, E-08036 Barcelona, Spain
Ribalta, T:
Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Neurol Tissue Bank, Biobanc, E-08036 Barcelona, Spain
Pinol-Ripoll, G:
Hosp Santa Maria, Neurol Serv, Cognit Disorders Unit, Lleida, Spain
Perez, A:
Hosp Santa Maria, Dept Internal Med, Lleida, Spain
Valldeoriola, F:
Hosp Clin Barcelona, Inst Clin Neurociencies, Neurol Serv, Movement Disorders Unit, E-08036 Barcelona, Spain
Ferrer, I:
Univ Barcelona, Hosp Univ Bellvitge, Inst Neuropatol, Ctr Networker Biomed Res Neurodegenerat Dis CIBER, Barcelona, Spain
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