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Table 1 Pathological, clinical and genetic info of human brain samples used

From: Promoter DNA methylation regulates progranulin expression and is altered in FTLD

   Clinical info Genetic info
Origin Pathological diagnosis*1 Clinical diagnosis Sub-class Gender Age at onset Age at death Fam/Spor Pathogenic Mutation TMEM106B rs19906222 GRN rs58483 C9ORF72 SORT14 RNA quality ok
VIB Def. Control N.A. N.A. m N.A. 78.1 N.A. N.A. CT CC no AG yes
VIB Def. Control N.A. N.A. m N.A. 66.3 N.A. N.A. CT CC no AA yes
VIB Def. Control N.A. N.A. m N.A. 73.3 N.A. N.A. TT TC no AA yes
VIB Def. Control N.A. N.A. f N.A. 62.7 N.A. N.A. TT TC no AA yes
VIB Def. Control N.A. N.A. m N.A. 64.6 N.A. N.A. CT TT no AG yes
MRC Def. Control N.A. N.A. m N.A. 77 N.A. N.A. CC TC no AG yes
MRC Def. Control N.A. N.A. m N.A. 66 N.A. N.A. CT CC no AG yes
MRC Def. Control N.A. N.A. m N.A. 54 N.A. N.A. TT CC no AA yes
MRC Def. Control N.A. N.A. m N.A. 59 N.A. N.A. TT TC no AG yes
MRC Def. Control N.A. N.A. m N.A. 55 N.A. N.A. CC CC no AA yes
MRC Def. Control N.A. N.A. m N.A. 67 N.A. N.A. CT TC no AA yes
MRC Def. Control N.A. N.A. m N.A. 78 N.A. N.A. CT CC no AA yes
MRC Def. Control N.A. N.A. m N.A. 79 N.A. N.A. TT TC no AG yes
MRC Def. Control N.A. N.A. m N.A. 50 N.A. N.A. TT CC no AA yes
MRC Def. Control N.A. N.A. m N.A. 82 N.A. N.A. CT CC no AG yes
VIB FTLD-TDP MXD N.A. m 72 83 S no CT CC no AA yes
VIB FTLD-TDP B FTLD FTD m 47 50 F no CT CC no AG yes
VIB FTLD-TDP FTLD prob AD f 80 88 F no CT TT no AA yes
VIB FTLD-TDP B FTLD-ALS FTD-ALS m 59 62 S no CT CT no AG yes
VIB FTLD-TDP D FTLD FTD f 44 56 F-AD VCP Arg159His5 TT TC no AA yes
VIB FTLD-TDP D FTLD FTD m 63 68 F-AD VCP Arg159His5 CT TT no AA yes
VIB FTLD-TDP A FTLD N.A. f 62 68 F-AD GRN IVS1 + 5G > C6 CT TC no AA yes
VIB FTLD-TDP A FTLD N.A. f 58 63 F-AD GRN IVS1 + 5G > C6 TT TC no AG yes
VIB FTLD-TDP A FTLD N.A. m 57 62 F-AD GRN IVS1 + 5G > C6 CT TC no AG yes
VIB FTLD-TDP A FTLD FTD f 69 75 F-AD GRN IVS1 + 5G > C6 TT TC no AA yes
MRC FTLD-TDP B FTLD FTD + MND m 43 45 S no CT CC no AG yes
MRC FTLD-TDP B FTLD FTD + MND m 65 67 S no CC CC no AG yes
MRC FTLD-TDP B FTLD FTD + MND m 74 76 S no TT TC no AG no
MRC FTLD-TDP B FTLD FTD m 60 68 S no TT CC no AA yes
MRC FTLD-TDP B FTLD FTD m 45 51 S no CT TT no AG yes
MRC FTLD-TDP B FTLD FTD m 59 66 S no TT CC no AA yes
MRC FTLD-TDP B FTLD FTD + MND m 58 69 S no CC CC no AA yes
MRC FTLD-TDP B FTLD FTD m 58 66 S no CT CC no AG no
MRC FTLD-TDP B FTLD FTD/SD m 68 74 S no TT CC no AA yes
MRC FTLD-TDP B FTLD MND m N.A. 71 S N.A. TT TC no AA no
VIB AD-CAA Prob AD   f 61 75 F APP -369C/G7 CT CC no AG yes
VIB AD Prob AD   f - 85 S no CT TC no AA no
VIB AD Prob AD   m 80 86 S no TT TC no AG yes
VIB AD Prob AD   m 87 91 U no CC CC no AG yes
VIB AD Prob AD   m 67 77 F no TT TC no AG yes
VIB AD Prob AD   f 64 79 S no CT TT no AA no
VIB AD Poss AD   m <84 87 S no CT CC no AA yes
VIB AD Prob AD   f 50 57 F PSEN1 P264L8 TT TC no AA yes
MRC PD PD   f 45 62 N.A. N.A. CC CC no AA yes
MRC PD Dementia   f ~84 89 N.A. N.A. CT TC no AA yes
MRC PD PD   f ~80 85 N.A. N.A. CC CC no AG yes
MRC PD PD   m ? 73 N.A. N.A. CC CC no AG yes
MRC PD ?   m ? 76 N.A. N.A. CC CC no AA yes
MRC PD PD   f 76 80 N.A. N.A. CT TC no AG yes
MRC PD PD   m 66 79 N.A. N.A. CT TC no AA yes
MRC PD PD?/AD   m 82 84 N.A. N.A. CT TC no AA yes
  1. * according to current classification criteria as proposed in [28],
  2. 1 [29],
  3. 2 [30],
  4. 3 [31],
  5. 4(van der Zee J. et al., unpublished data),
  6. 5 [32],
  7. 6 [10],
  8. 7 [33],
  9. 8 [34]
  10. AD Alzheimer’s disease, ALS amyothropic lateral sclerosis, APP amyloid precursor protein, CAA Cerebral Amyloid Angiopathy, F familial, F-AD familial autosomal dominant, IVS splice donor site of intron 1 MND motorneuron disease, MRC Medical Research Council London Neurodegenerative Diseases Brain Bank, MXD mixed dementia, N.A. not applicable, PD Parkinson’s disease, Prob probably, Poss possibly, S sporadic, SD semantic dementia, PSEN1 presenilin 1, U unknown, VIB VIB Department of Molecular Genetics, Antwerp, Belgium.