Disease | Likely usefulness of cerebral biopsy | Frontal or temporal site preferred (F/T) | Stains recommend in first instance | Secondary stains confirmatory | Secondary stains to exclude other diagnoses | Other information required | Comments |
---|---|---|---|---|---|---|---|
AD (IV-VI) | High | F or T | HE, tau, p62, Aβ | TDP-43, α-syn | History, scans | ||
PSP | Low | N/A | HE, p62, tau | 4-R tau, | Aβ, TDP-43, α-syn | History, scans, genetics | Negative biopsy does not exclude. Rule out MAPT mutation FTD and/or other parkinsonian diseases |
3-R tau | |||||||
CBD | High | F or T | HE, p62, tau | 4-R tau, | Aβ, TDP-43, α-syn | History, scans, genetics | Rule out MAPT mutation |
3-R tau | |||||||
MAPT mutation | Likely to depend on mutation | N/A | HE, p62, tau | 4-R tau, | Aβ, TDP-43, α-syn | History, scans, genetics | Genetics essential for diagnosis |
3-R tau | |||||||
DLB | High- neocortical, Moderate-Low - limbic | F >T | HE, p62, α-syn, | Aβ, tau, TDP-43 | History, scans | Often seen with AD pathology | |
MSA | High | F or T | HE, p62, α-syn, | tau | History, scans | White matter essential in the biopsy | |
HD | High | F or T | HE, p62 | polyglutamine | TDP-43, FUS | History, scans, genetics | Genetics essential for diagnosis |
FTLD-TDP/ FTLD-MND | High | T > F | HE, p62, TDP-43 | Aβ, tau, FUS | History, scans, genetics | History to tell FTLD-MND from FTLD-TDP | |
ALS | Very low-nil | N/A | HE, p62, TDP-43, FUS | History, scans genetics | Biopsy-Very unlikely to help | ||
Metabolic disease | Likely to depend on disease | N/A | HE, PAS, LFB/N | p62, tau | History, scans genetics | ||
CVD | Depends what type: infarct-high AA-high Binswanger’s-low | N/A | HE, Aβ, CR | p62, tau, LFB/N | History, scans | Leptomeninges needed for AA, Binswanger’s likely to be missed without deep white matter | |
Prion Disease | Moderate-High | unknown | HE, GFAP, PrP | Aβ, tau, TDP-43, α-syn | History, scans genetics | Negative biopsy does not rule out diagnosis | |
FTLD-FUS | unknown | unknown | HE, p62, FUS | Aβ, tau, TDP-43, α-syn | History, scans genetics | ||
PiD | High | unknown | HE, p62, tau | 4-R tau, 3-R tau | TDP-43, Aβ, α-syn | History, scans genetics | Rule out MAPT mutation |
PD | Very low-nil | N/A | HE, p62 α-syn | tau | History, scans genetics | Biopsy could rule out other causes of parkinsonism |