Mutazioak progranulina genean: eragiten duten klinika, patologia eta RNA mailako adierazpena

Alzualde Zuloaga, Ainhoa
; Gorostidi Pagola, Ana
; López de Munain Arregi, Adolfo
; Martí Massó, José Félix
; Otaegui Bichot, David
; Ruiz Martínez, Javier

Publication year:

2008

Publication place:

Donostia-San Sebastián

ISSN:

1989-2012

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Summary

The degeneration of the frontotemporal lobe (FTLD) is a complex group of ; illnesses which are classified within those of dementia. In this work we present the clinical analysis, molecular and pathologic, of a series of patients who suffer from FLD. Among the 72 patients we found 4 different mutations and 14 mutated patients. In addition we have measured the level of representation of the PGRN gene which is found in the blood cells and we have demonstrated that it can be used as a biological indicator of the illness.