Abstract
BackgroundIn theory, cerebral biopsies could provide the diagnosis in a significant proportion of patients with neurodegenerative diseases, however, there are considerable ethical barriers. Previous series of cerebral biopsies have shown variable diagnostic accuracy but have understandably suffered because of lack of post-mortem tissue with which to compare the diagnosis. To determine the accuracy of such biopsies in neurodegenerative disease we took small biopsy-sized samples of predominantly fresh post-mortem brain tissue from frontal and temporal lobes in 62 cases. These were processed as for a biopsy and stained for H&E, p62, tau, Aβ, α-synuclein, and TDP-43. The sections were assessed blind by 3 neuropathologists and the results compared with the final post-mortem diagnosis.ResultsThe agreement and sensitivity in most cases was good especially: controls; Alzheimer’s disease (AD); multiple system atrophy (MSA); frontotemporal lobar degeneration with TDP-43 positive inclusions and/or motor neurone disease (FTLD-TDP/MND); Huntington’s disease (HD); corticobasal degeneration (CBD) / microtubular associated protein tau mutation cases with CBD-like features (CBD/MAPT); and combined AD- Dementia with Lewy Bodies (AD-DLB) where the sensitivity on assessing both brain regions varied between 75-100%. There was poor sensitivity for progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) (both 0%), but moderate sensitivity for pure DLB (60%). The temporal lobe assessment was marginally more accurate than the frontal lobe but these were only slightly worse than both combined.ConclusionsThe study shows that with certain caveats the cerebral biopsy in life should be a viable method of accurately diagnosing many neurodegenerative diseases.
Highlights
In theory, cerebral biopsies could provide the diagnosis in a significant proportion of patients with neurodegenerative diseases, there are considerable ethical barriers
Overall there was very good agreement with the gold standard autopsy diagnosis
Assessing the temporal lobe alone was marginally more accurate than assessing the frontal lobe alone but both yielded excellent results and this accuracy increased only slightly when combining the assessment of both biopsy sites
Summary
Cerebral biopsies could provide the diagnosis in a significant proportion of patients with neurodegenerative diseases, there are considerable ethical barriers. Venneti et al using a simulated brain biopsy technique on partially-covered post-mortem brain slides attempted to determine the accuracy of biopsy interpretation by comparing the results with the final autopsy diagnosis [9] They achieved relatively good sensitivity for many diseases when assessing frontal lobe only, but when 4 brain regions were assessed the accuracy increased considerably. They conceded that at least one of the four regions (basal ganglia) would probably not be appropriate for a routine biopsy procedure, and the analysis suffered a little on being retrospective in nature The aim of this current study was again to assess the accuracy of a simulated brain biopsy, but on this occasion by using fresh post-mortem brain tissue. The technique would allow sampling of the same potential biopsy sites as those targeted in life by neurosurgeons, whilst at the same time allowing good comparison with the final neuropathological diagnosis on the whole fixed brain
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