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Alzheimer’s disease (AD) cerebrospinal fluid (CSF) biomarkers are promising tools to help identify the underlying pathology of neurocognitive disorders. In this manuscript, we report our experience with AD CSF biomarkers in 262 consecutive patients in a tertiary care memory clinic.
We retrospectively reviewed 262 consecutive patients who underwent lumbar puncture (LP) and CSF measurement of AD biomarkers (Aβ1–42, total tau or t-tau, and p-tau181). We studied the safety of the procedure and its impact on patient’s diagnosis and management.
The LP allowed to identify underlying AD pathology in 72 of the 121 patients (59%) with early onset amnestic mild cognitive impairment (aMCI) with a high probability of progression to AD; to distinguish the behavioral/dysexecutive variant of AD from the behavioral variant of frontotemporal dementia (bvFTD) in 25 of the 45 patients (55%) with an atypical neurobehavioral profile; to identify AD as the underlying pathology in 15 of the 27 patients (55%) with atypical or unclassifiable primary progressive aphasia (PPA); and to distinguish AD from other disorders in 9 of the 29 patients (31%) with psychiatric differential diagnoses and 19 of the 40 patients (47%) with lesional differential diagnoses (normal pressure hydrocephalus, encephalitis, prion disease, etc.). No major complications occurred following the LP.
Our results suggest that CSF analysis is a safe and effective diagnostic tool in select patients with neurocognitive disorders. We advocate for a wider use of this biomarker in tertiary care memory clinics in Canada.
This chapter talks about a 77-year-old right-handed woman who presented to clinic with a 7-year history of slowly progressive difficulty with visuospatial processing followed by language and memory dysfunction. The general physical examination was normal. On mental status examination, the patient was alert and fully oriented. Her speech was fluent with occasional word finding pauses. Based on the patient's history of slowly progressive visuospatial dysfunction followed by mild deficits in language and memory, physical and cognitive examination findings suggestive of biparietal dysfunction and marked parietal atrophy on brain imaging, the patient was diagnosed with posterior cortical atrophy (PCA). The most likely underlying histopathology was felt to be Alzheimer's disease (AD), based on the strong relationship between the PCA clinical syndrome and underlying AD. Corticobasal degeneration was also considered, but was felt to be less likely given the paucity of movement abnormalities and Parkinsonian features seven years after symptom onset.