ABSTRACT
OBJECTIVES: Our work was aimed to evaluate Alzheimer's disease diagnosis improvement using cerebrospinal fluid biomarkers (CSF) in neurological daily practice. MATERIALS AND METHODS: For this purpose, 150 patients clinically and neurochemically classified as having AD or cognitive impairment with or without other dementia type were included in the study. The following CSF peptides were studied, blindly to the clinical diagnosis: beta-amyloid(1-42) peptide (Aß(1-42)), Tau (T-tau), threonine-181 hyperphosphorylated tau protein (P-tau(181)), and beta-amyloid(1-40) peptide (Aß(1-40)). From these measurements, Innotest® Amyloid Tau Index (IATI) was calculated for each patient. RESULTS: This assessment allowed to separate 83 biochemical profiles of AD and 67 non-Alzheimer's disease (non-AD), both AD and non-AD categories match with clinical data amounting to 73% and 90%, respectively. Among mild cognitive impairment (MCI) patients, CSF biomarkers led to discriminate those who are likely to be AD. We devoted a special section to Aß(1-40) which is not a routine parameter but can help to confirm a pathological amyloid process as Aß(1-42)/Aß(1-40) ratio underlining the real decline of the Aß(1-42). CONCLUSIONS: The interest of biomarkers and their ability to solve awkward cases were carefully noticed all the more when a discrepancy between clinical and CSF biological data was involved. The final proposed algorithm allowed to identify pathogenic forms of AD according to the prevailing role of hyperphosphorylated tau or amyloid beta peptide.
Subject(s)
Alzheimer Disease/cerebrospinal fluid , Alzheimer Disease/diagnosis , Amyloid beta-Peptides/cerebrospinal fluid , Adult , Aged , Aged, 80 and over , Biomarkers/cerebrospinal fluid , Cognitive Dysfunction/cerebrospinal fluid , Cognitive Dysfunction/diagnosis , Female , Humans , Male , Middle Aged , tau Proteins/cerebrospinal fluidABSTRACT
Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of the same region causes hereditary neuropathy with liability to pressure palsies (HNPP). We examined the expression of PMP22 in sural nerve biopsies from 2 unrelated patients with CMT-1A, 2 unrelated patients with HNPP, and control patients. The ultrastructural immunocytochemical quantitative analysis of cases of CMT-1A and HNPP showed, respectively, an elevated and reduced expression of PMP22 level compared with controls.
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/physiopathology , Chromosomes, Human, Pair 17/genetics , Sural Nerve/physiopathology , Sural Nerve/ultrastructure , Culture Techniques , Gene Expression , Humans , Immunohistochemistry , Multigene Family/genetics , Neural Conduction/geneticsABSTRACT
A probable transient ischemic attack in a 45-year-old woman revealed bilateral atrial myxoma associated with lentiginosis. The patient's 20-year-old son had isolated lentiginosis. The characteristics of this autosomal dominant syndrome are reviewed.
