Leveraging automation & mass spectrometry for the diagnosis of autosomal dominant and sporadic Alzheimer's disease.
DeMarco ML, Nguyen Q, Fok A, Hsiung GY, van der Gugten JG. An automated clinical mass spectrometric method for identification and quantification of variant and wild-type amyloid-beta peptides 1-40 and 1-42 in CSF. Alzheimer's & Dementia. 2020;e12036.
Extension of the HPLC-MS/MS approach for quantification of wild-type amyloid-beta 42 and amyloid-beta 40 to include known sequence variants increases analytical accuracy of the mass spectrometric approach and enables identification of cases of autosomal dominant Alzheimer’s disease. Development of an automated workflow and selection of appropriate instrumentation enabled deployment of this method in routine clinical testing.