Table 2:

Examples of integrated neurodegenerative disease autopsy diagnosis

Final Diagnosis #1 (Example of frontotemporal degeneration): Integrated diagnosis: C9orf72-associated frontotemporal degeneration Histologic diagnosis: Frontotemporal lobar degeneration with TDP-43 inclusions, type B Co-morbid pathology: Low level of Alzheimer’s disease neuropathologic change (Al, B2, Cl) Clinical classification: Behavioral variant frontotemporal degeneration (bvFTD) Molecular data: C9orf72 hexanucleotide repeat expansion present

Final Diagnosis #2 (Example of Alzheimer's disease): Integrated diagnosis: Alzheimer's disease, posterior cortical atrophy variant Histologic diagnosis: High level of Alzheimer’s disease neuropathologic change (A3, B3, C3) Clinical classification: Posterior cortical atrophy Molecular data: APOE E3/E4

Final Diagnosis #3 (Example of Lewv hodv disease): Integrated diagnosis: Parkinson’s disease dementia Histologic diagnosis: Lewy body disease, neocortical pattern with a high level of Alzheimer's disease neuropathologic change (A3, C3, B2) Clinical classification: Parkinson's disease dementia Molecular data: Not available

Final Diagnosis #4 (Example of motor neuron disease): Integrated diagnosis: Amyotrophic lateral sclerosis Histologic diagnosis: Motor neuron disease with TDP-43 inclusions Clinical classification: Amyotrophic lateral sclerosis, bulbar onset Molecular data: SOD1 and C9orf72 mutations not detected