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Table 3 Illustrating the likely usefulness and limitations of cerebral biopsies in the diagnosis of neurodegenerative diseases

From: Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups

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

  1. Those cases in italics were not included in this study but features have been included and estimated from the following references [3, 5, 7, 9]. AA amyloid angiopathy, CVD cerebrovascular disease, CR congo red, F frontal lobe, FTD frontotemporal dementia, GFAP glial fibrillary acidic protein, LFB/N Luxol fast blue/Nissl, N/A details not applicable, PAS Periodic acid Schiff, PiD Pick’s disease, PD Parkinson’s disease, PrP prion protein, α- syn α-synuclein, T temporal lobe.
  2. > - estimated to be more slightly more sensitive site than.