Neuropathological post-mortem examination of the brain and the spinal cord in ten key points – What can a neurologist expect from the neuropathologist’s confirmation of the clinical diagnosis in neurodegenerative diseases?
Authors:
Z. Rohan 1,2; R. Rusina 3,4; R. Matěj 1,2
Authors‘ workplace:
Oddělení patologie a národní referenční laboratoř TSE-CJN, Thomayerova nemocnice, Praha
1; Ústav patologie, 1. LF UK a VFN v Praze
2; Neurologická klinika a Centrum klinických neurověd 1. LF UK a VFN v Praze
3; Oddělení neurologie, Thomayerova nemocnice, Praha
4
Published in:
Cesk Slov Neurol N 2018; 81(1): 109-114
Category:
Neuropathological window
doi:
https://doi.org/10.14735/amcsnn2018109
Overview
Standardized brain and spinal cord autopsy is a key feedback mechanism for clinical diagnosis of neurodegenerative diseases. Clinical diagnostic criteria in neurodegenerative disorders reach the “possible” and “probable” levels. Neuropathological brain examination is often the only diagnostic modality able to confirm the “definite” level of diagnosis in dementia, behavior disorders and movement disorders and thus serves as an invaluable feedback for the clinician; and in clinical studies, it is used to assess therapy-related changes and validate potential diagnostic and prognostic biomarkers. The brain and spinal cord autopsy is performed following a standardized protocol analyzing all diagnostically relevant structures. Precise diagnostic procedures are performed using standard and special histological and histochemical staining; however, only a standardized set of special immunohistochemical investigations can confirm the precise neuropathological diagnosis in neurodegenerative diseases. The purpose of the article is to provide clinical neurologists in 10 points with a brief and practical overview about the usefulness of brain and spinal cord autopsy in neurodegenerative disease and about what the clinician can expect from the neuropathological protocol.
Key words:
dementia – neurodegenerative diseases – brain autopsy – brain biopsy
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.
Sources
1. Veress B, Alafuzoff I. A retrospective analysis of clinical diagnoses and autopsy findings in 3,042 cases during two different time periods. Hum Pathol 1994; 25(2): 140– 145.
2. Rohan Z, Matej R, Rusina R. Překrývání neurodegenerativních demencí. Cesk Slov Neurol N 2015; 78/ 111(6): 641– 648. doi: 10.14735/ amcsnn2015641.
3. de Carvalho M, Dengler R, Eisen A et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008; 119(3): 497– 503. doi: 10.1016/ j.clinph.2007.09.143.
4. Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis:a systematic review. Arch Neurol 2012; 69(11): 1410– 1416. doi: 10.1001/ archneurol.2012.254.
5. Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington‘s disease based on natural history. Mov Disord 2014; 29(11): 1335– 1341. doi: 10.1002/ mds. 26011.
6. Kovacs GG, Milenkovic I, Wohrer A et al. Non-Alzheimer neurodegenerative pathologies and their combinations are more frequent than commonly believed in the elderly brain: a community-based autopsy series. Acta Neuropathol 2013; 126(3): 365– 384. doi: 10.1007/ s00401-013-1157-y.
7. Toledo JB, Brettschneider J, Grossman M et al. CSF biomarkers cutoffs: the importance of coincident neuropathological diseases. Acta Neuropathol 2012; 124(1): 23– 35. doi: 10.1007/ s00401-012-0983-7.
8. Murray ME, Graff-Radford NR, Ross OA et al. Neuropathologically defined subtypes of Alzheimer‘s disease with distinct clinical characteristics: a retrospective study. Lancet Neurol 2011; 10(9): 785– 796. doi: 10.1016/ s1474-4422(11)70156-9.
9. Janocko NJ, Brodersen KA, Soto-Ortolaza AI et al. Neuropathologically defined subtypes of Alzheimer‘s disease differ significantly from neurofibrillary tangle-predominant dementia. Acta Neuropathol 2012; 124(5): 681– 692. doi: 10.1007/ s00401-012-1044-y.
10. Schuette AJ, Taub JS, Hadjipanayis CG et al. Open biopsy in patients with acute progressive neurologic decline and absence of mass lesion. Neurology 2010; 75(5): 419– 424. doi: 10.1212/ WNL.0b013e3181eb5889.
11. Metodický list TSE/ CJN, surveillance, diagnóza a terapie transmisivních spongiformních encefalopatií a Creutzfeldt-Jakobovy nemoci. 2000.
12. Rohan Z, Matej R. Pitva mozku a míchy při diagnóze neurodegenerativního onemocnění – praktický postup pro optimalizaci vyšetření. Cesk Patol 2015; 51(4): 199– 204.
13. Matej R, Rusina R. Neurodegenerativní onemocnění: přehled současné klasifikace a diagnostických neuropatologických kritérií. Cesk Patol 2012; 48(2): 83– 90.
14. Rohan Z, Matej R. Current concepts in the classification and diagnosis of frontotemporal lobar degenerations: a practical approach. Arch Pathol Lab Med 2014; 138(1): 132– 138. doi: 10.5858/ arpa.2012-0510-RS.
Labels
Paediatric neurology Neurosurgery NeurologyArticle was published in
Czech and Slovak Neurology and Neurosurgery
2018 Issue 1
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