Study | Year | Defined pathologies | Pathology confirmed cases, n | Comparison with controls | Direct pathology comparison | PubMed ID |
Whitwell et al | 2004 | Tau-positive FTLD, tau-negative FTLD | 9, 8 | Yes | No | 16908994 |
Whitwell et al | 2005 | FTLD-U, Pick’s, MAPT | 9, 7, 5 | Yes | Yes | 16157747 |
Josephs et al | 2006 | NA—various pathologies grouped by language impairment features | 12 | NA | NA | 16613895 |
Grossman et al | 2007 | Tau-positive FTLD, tau-negative FTLD, (frontal variant)-AD | 5, 4, 3 | Yes | No | 17998442 |
Josephs et al | 2008a | (aphasic)-AD, (aphasic)-FTLD-U, (typical)-AD | 5, 5, 10 | Yes | Yes | 18166704 |
Josephs et al | 2008b | PSP, CBD | 13, 11 | Yes | No | 17097770 |
Josephs et al | 2008c | Argyrophilic grain pathology | 12 | Yes | No | 17188783 |
Whitwell et al | 2008 | Braak stages III–VI | 10, 13, 32, 27 | Yes | NA | 18765650 |
Josephs et al | 2009 | NA—FTLD groups defined based on clinical features | 11 | NA | NA | 19884571 |
Pereira et al | 2009 | Tau-positive FTLD, FTLD-U | 6, 9 | Yes | No | 19433738 |
Hu et al | 2010 | NA—various pathologies grouped by language impairment features | 8 | NA | NA | 20713948 |
Josephs et al | 2010 | (CBS)-CBD, (CBS)-AD | 6, 5 | Yes | Yes | 20629131 |
Rohrer et al | 2010a | GRN, MAPT | 9, 11 | Yes | Yes | 20045477 |
Rohrer et al | 2010b | FTLD-TDP43 (types A–C and unspecified) | 9, 5, 10, 4 | Yes | No | 21172843 |
Whitwell et al | 2010a | (CBS)-TDP43, (CBS)-AD, (CBS)-CBD, (CBS)-PSP | 5, 6, 7, 6 | Yes | Yes | 21098403 |
Whitwell et al | 2010b | FTLD-TDP43 (types A–C) | 22, 9, 11 | Yes | Yes | 21172844 |
Lee et al | 2011 | CBD, (CBS)-AD, (CBS)-CBD, (CBS)-PSP, (CBS)-TDP, (CBS)-mixed | 18, 9, 14, 5, 5, 5 | Yes | Yes | 21823158 |
Rankin et al | 2011 | (bvFTD)-CBD, (bvFTD)-Pick’s | 5, 5 | Yes | Yes | 21881831 |
Rohrer et al | 2011 | Pick’s, MAPT, CBD, TDP43A, TDP43C | 9, 6, 5, 6, 12 | Yes | No | 21908872 |
Whitwell et al | 2011a | (typical)-AD, (atypical)-AD, FTLD | 14, 14, 14 | Yes | Yes | 19914744 |
Whitwell et al | 2011b | Pick’s, CBD, TDP43A | 5, 5, 5 | Yes | Yes | 21556732 |
Boxer et al | 2012 | NA—FTLD and AD correlations with saccade parameters | 37 | NA | NA | 22491196 |
Hornberger et al | 2012 | (bvFTD)-FTLD, AD | 19, 18 | Yes | No | 23012333 |
Khan et al | 2012 | (slowly progressive bvFTD)-C9ORF72 | 2 | Yes | No | 22399793 |
Mahoney et al | 2012 | C9ORF72, MAPT, GRN | 11, 11, 8 | Yes | Yes | 22366791 |
Whitwell et al | 2012a | NA—bvFTD groups defined based on frontal lobe symmetry | 80 | NA | NA | 22502999 |
Whitwell et al | 2012b | MAPT, GRN, C9ORF72, FTLD | 25, 12, 19, 12 | Yes | Yes | 22366795 |
Whitwell et al | 2012c | typical AD, hippocampal-sparing AD, limbic-predominant AD | 125, 19, 33 | Yes | Yes | 22951070 |
Cash, Ridgway et al | 2013 | (presymptomatic)-familial AD, (symptomatic)-familial AD | 69, 50 | Yes | Yes | 24049139 |
Caso et al | 2013 | Pick’s | 1 | Yes | No | 22713404 |
Coon et al | 2013 | FTLD-MND | 2 | Yes | No | 22051030 |
Scahill et al | 2013 | APP, PSEN1 | 10, 18 | Yes | Yes | 23380992 |
Toledo et al | 2013 | AD, AD+MTL, AD+DLB, AD+DLB+MTL | 7, 5, 6, 4 | No | Yes | 24252435 |
Josephs et al | 2013a | (typical)-AD, (lvPPA)-AD | 20, 10 | Yes | No | 23541297 |
Josephs et al | 2013b | CSTD-positive TDPC, CSTD-equivocal TDPC, CSTD-negative TDPC | 2, 5, 5 | Yes | Yes | 23358603 |
Murray et al | 2013 | NA—DLB groups defined by presence of REM sleep behaviour disorder | 75 | NA | NA | 24107861 |
Caso et al | 2014 | (nfvPPA)-tau, (nfvPPA)-TDP43 | 9, 2 | Yes | No | 24353332 |
Henry et al | 2014 | TDP43C | 1 | Yes | No | 23171151 |
Josephs | 2014 | TDP43-positive AD, TDP43-negative AD | 195, 147 | Yes | Yes | 24659241 |
Nedelska et al | 2015 | DLB, DLB-AD, AD | 20, 22, 30 | Yes | Yes | 25128280 |
Ossenkoppele et al | 2015 | (behavioural/dysexecutive)-AD, (typical)-AD, (bvFTD)-FTLD | 24, 17, 12, 8, 21 | Yes | Yes | 26141491 |
Sala-Llonch et al | 2015 | Symptomatic-PSEN1, asymptomatic-PSEN1 | 11, 13 | Yes | No | 25638532 |
Shingawa et al | 2015 | NA—C9ORF72 groups were defined based on the presence of delusions | 17 | NA | NA | 25342578 |
Parentheses indicate additional clinical features or diagnosis. The number of pathology cases is listed per defined pathology group.
AD, Alzheimer’s disease; APP, amyloid precursor protein mutation carriers; bvFTD, behavioural variant FTD; C9ORF72, chromosome 9 open reading frame 72 mutation carriers; CBD, corticobasal degeneration; CBS, corticobasal syndrome; CTSD, corticospinal tract degeneration; DLB, dementia with Lewy bodies; FTD, frontotemporal dementia; FTLD, frontotemporal lobar degeneration; FTLD-MND, FTLD with motor neuron disease; FTLD-U, FTLD with ubiquitin-positive (tau-synuclein-negative and alpha-synuclein-negative) inclusions; GRN, progranulin mutation carriers; MAPT, microtubule-associated protein tau mutation carriers; MTL, medial temporal lobe pathology; NA, not applicable; nfvPPA, non-fluent variant primary progressive aphasia; PSEN1, presenilin-1 mutation carriers; PSP, progressive supranuclear palsy; TDP43, transactive response DNA-binding protein 43.