Table 2.
A review of the findings from the current study and other studies on subjects found to carry the C9ORF72 expansion.
| NIH / NINDS C9ORF72 expansion negative |
NIH / NINDS C9ORF72 expansion positive |
DeJesus- Hernandez et al |
Renton et al |
Murray et al | Gijselnick et al |
Stewart et al | Pearson et al |
|
|---|---|---|---|---|---|---|---|---|
| Sample | FTD spectrum patients not enriched for FH or MND |
FTD spectrum patients not enriched for FH or MND |
374 clinical FTLD, out of total of 696 clinical and pathological patients) |
75 Finnish FTLD cases |
20 expansion+ pathological cases from a brain bank |
305 FTLD cases, 137 ALS, 23 with FTD-ALS |
231 ALS patients |
9 expansion+ cases of ALS-FTD in one family |
|
Expansion
prevalence |
49 | 4 8% overall, 3% of sporadic and 15% of familial were expansion + |
3% sporadic and 11.7% familial were expansion+ |
22 (29.3%) expansion+ |
20 |
Familial: 86% of FTD- ALS 47% of ALS 16% of FTLD Sporadic: 6% of FTD- ALS 5% of ALS 4% of FTLD |
3.6% of sporadic, 27.4% of familal |
N.A. |
|
Clinical
Diagnoses |
4 FTD-ALS 27 probable bv-FTD 9 possible FTLD 6 PPA-PNFA 2 PPA- semantic 4 AD 1 MSA |
2 FTD-ALS 2 bv-FTD |
For +: 25 bv-FTD 1 language- variant 7 of the 26 also had ALS |
For +: 8 PPA- PNFA 16 bv-FTD 8 of the 22 had personal or FH of ALS |
8 FTLD 6 ALS 1 FTD-ALS 4 AD 1 Other |
Selected for cases of FTLD, ALS, and FTD-ALS |
Expansion + cases more frequent bulbar onset and FTD-ALS |
5 presented with ALS, 1 with FTD- ALS, and 3 with bv-FTD. 2 developed psychosis, 3 visuo-spatial dysfunction, 4 |
|
Mean age of
onset |
57 | 58 | For +: 56.2 | Overall 58.4 | 61.75 | FTLD: 55.3 in carriers, 63.2 years in non- carriers ALS: 54.5 in carriers, 60.4 years in non- carriers |
For +: 58.2, for -: 57.4 |
42.7 |
|
+FH of a first-
degree relative with dementia or ALS |
15/44 (34%) | % (75%) | For +: 37/52 (71%) |
Overall 27 (36%) |
12/20 (60%) | FTD-ALS: 30% ALS: 10% FTLD: 25% |
For +: 73% for -: 15% |
N.A. |
|
Evidence of
anticipation |
N/A | Probands earlier age of onset than parents |
Not apparent | Not observed |
-- | Trend towards younger age of onset between generations |
-- | -- |
| FDG-PET | -- | 1 typical for FTLD 3 c/w FTLD or AD |
-- | -- | -- | -- | -- | -- |
| Pathology | -- | 1 FTLD-TDP type B with AD pathology |
11 – all FTLD- TDP type B |
-- | FTLD-TDP type B. One case had AD pathology |
FTLD-TDP type B, more ubiquitin than TDP-43+ staining |
ALS with TDP-ir inclusions and FTLD- TDP type B, more ubiquitin than TDP-43+ staining |
FTLD-TDP type B |