Degeneratio lobularis frontotemporalis

Degeneratio lobularis frontotemporalis (abbreviatura internationalis: FTLD) conscribit grex morborum diversorum cum symptomate dementiae frontotemporalis, quo atrophia cerebralis modo ad lobum frontalem et temporalem attinet, at non ad lobum parietalem vel occipitalem. In gradu neuropathologico corpuscula inclusionis proteinis, potissimum vel Tau vel TDP-43, intra neurones cellulasque gliales inveniuntur. Geneticae mutationes magnum momentum habent, cum generibus mutationum histologicarum, et mutationibus geneticis in praecipue tribus genis discretis^[1].

In praesentationibus aegrotorum non minus quam tria symptomata clinica dementiarum frontotemporalium cum mutatis modis vel morum vel meditandi vel loquendi vel motuum descripta sunt.

Neuropathologia

Adhuc tria genera corpusculorum inclusionis sub microscopio inveniri possunt, proteinorum Tau, TDP-43, et typi FUS.

Proteinum tau → FTLD-Tau dicta^[2]
TDP-43 → FTLD-TDP dicta
proteina ex genis FUS → FTLD-FUS dicta (rarius)

Mutationibus proteinorum lysosomalium, ut progranulini (PGRN) et proteini transmembranacei 106B (TMEM106B) momentum formationis degenerationis lobularis frontotemporalis est^[3].

Mutationes geneticae

Ut supra scriptum corpuscula inclusiones cum mutationibus genetica nexa sunt. Adhuc corpuscula inclusionis proteini Tau una mutatio genetica, proteini TDP-43 tres attributae potuerunt.

Mutatio cum proteino Tau coniuncta

Genum MAPT (chromosomate 17 locatum)

Mutationes cum proteino TDP-43 coniunctae

Genum GRN (chromosomate 17 locatum)
Genum C9orf72 (chromosomate 9 locatum)
Genum VCP (cum myopathia, chromosomate 9 locatum)

Symptomata clinica

Dementia frontotemporalis varietatis se gerendi (bvFTD)
Aphasiae progressivae primariae
- varietatis semanticae (SD, sive dementia semantica)
- varietatis agrammaticae nonfluentis (PNFA)
- varietatis logopenicae (rarissime)

Notae

↑ Mann D. M. A., Snowden J. S. (2017). "Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype". Brain pathology 27 (6): 723-36
↑ Irwin D. J., Cairns N. J., Grossman M., McMillan C. T., Lee E. B., Van Deerlin V. M., Lee V. M., Trojanowski J. Q. (2015). "Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine". Acta neuropathologica 129 (4): 469-91
↑ Zhou X., Brooks M., Jiang P., Koga S., Zuberi A. R., Baker M. C., Parsons T. M., Castanedes-Casey M., Phillips V., Librero A. L., Kurti A., Fryer J. D., Bu G., Lutz C., Dickson D. W., Rademakers R. (Oct 2020). "Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin-deficient mice". EMBO reports 21 (10): e50197

Nexus interni

imago adenomatis serratae coloni

Haec stipula ad pathologiam spectat. Amplifica, si potes!

[1] Mann D. M. A., Snowden J. S. (2017). "Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype". Brain pathology 27 (6): 723-36

[2] Irwin D. J., Cairns N. J., Grossman M., McMillan C. T., Lee E. B., Van Deerlin V. M., Lee V. M., Trojanowski J. Q. (2015). "Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine". Acta neuropathologica 129 (4): 469-91

[3] Zhou X., Brooks M., Jiang P., Koga S., Zuberi A. R., Baker M. C., Parsons T. M., Castanedes-Casey M., Phillips V., Librero A. L., Kurti A., Fryer J. D., Bu G., Lutz C., Dickson D. W., Rademakers R. (Oct 2020). "Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin-deficient mice". EMBO reports 21 (10): e50197

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