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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.
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Acta Neuropathologica Communications

ISSN: 2051-5960

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