eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | corticobasal degeneration |
| Comorbidity | C0236642|pick\'s disease |
| Sentences | 2 |
| PubMedID- 21987561 | Ftld-tau is classified into the following 4 types: pick's disease (accumulation of three-repeat tau); corticobasal degeneration (cbd, accumulation of cbd-type four-repeat tau); progressive supranuclear palsy (psp, accumulation of psp-type four-repeat tau); and frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17, mutation of the tau gene). |
| PubMedID- 21908872 | The five in vivo brain biopsy cases in this series comprised three cases of pick's disease, one case with corticobasal degeneration and one with fus-neuronal intermediate filament inclusion disease pathology.table 1pathological and clinical summary of cases in the seriespathologyn (%)gender, % maleage at clinical onset, mean (sd) (years)age at death, mean (sd) (years) duration, mean (sd) (years)clinical presentationbehavioural variant ftdftd/mndsemantic dementiapnfacorticobasal syndromepspstau42 (44) pick’s disease13 (14)69.255.4 (5.8)69.2 (3.5)a12.0 (4.3)a604300 mapt mutations14 (15)64.350.4 (8.6)62.6 (10.4)12.1 (4.3)1200020 corticobasal degeneration9 (9)55.658.2 (9.0)67.8 (7.8)b8.3 (2.2)b300411 progressive supranuclear palsy6 (6)28.659.0 (5.2)69.8 (36)10.0 (1.9)000015tdp-4348 (51) a25 (26) (9 grn)60.058.3 (6.9)65.3 (8.2)6.4 (2.5)2010310 b3 (3)33.355.7 (6.7)60.8 (5.7)5.2 (1.0)030000 c19 (20)78.959.3 (6.6)72.2 (5.9)12.9 (2.7)0019000 d1 (1)100.052.062.010.0100000fus5 (5) atypical ftldu4 (4)100.045.5 (4.7)53.9 (4.4)8.4 (2.5)400000 nifid1 (1)0.027.0nana100000total95474231056a data from 10 patients.b data from 8 patients.na = not available; nifid = neuronal intermediate filament inclusion disease; psps = progressive supranuclear palsy syndrome. |
Page: 1