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<p><b>Objectives.</b> To estimate the detection rate of Alzheimer’s disease (AD) confirmed using cerebrospinal fluid (CSF) biomarkers in a cohort of patients with the classical (amnestic) and atypical phenotypes of this disease. <b>Materials and methods.</b> The study included 63 patients (24 men and 39 women; median age 65 years [60; 71]). The patients were divided into three groups depending on phenotype: the classical amnestic phenotype (<i>n</i> = 32), common non-amnestic phenotypes (<i>n</i> = 21), and rare non-amnestic phenotypes (<i>n</i> = 10). All patients underwent lumbar puncture with subsequent investigation of biomarkers in CSF (β-amyloid 1–42 (Aβ1–42) and phosphorylated tau protein 181 (p-tau181)) to confirm AD pathology. Clinical features were assessed in each of the studied subgroups. <b>Results.</b> Changes in CSF biomarkers, with a decrease in Aβ1–42 in combination with an increased level of p-tau181, were found in 36 (57.1%) patients. Changes in at least one biomarker were detected in 54 (85.7%) patients. The highest frequency of Alzheimer’s-type pathology was found in patients from the group with predominance of amnestic disorders (87.5%), and in the subgroups with the logopenic variant of primary progressive aphasia (100%) and posterior cortical atrophy syndrome (100%). In the group with rare phenotypes, the detection rate of CSF changes typical of AD was 50% for patients with predominance of behavioral disorders and 66.7% for those with corticobasal syndrome. <b>Conclusions.</b> The results obtained here demonstrated a high detection rate of CSF biomarkers typical of AD in both the classical (amnestic) form and atypical phenotypes. This points to the need to expand the use of AD biomarker studies in CSF for more reliable assessment of the prevalence of AD in Russia.</p>

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Experience of the Diagnosis of Alzheimer’s Disease Based on the Study of Cerebrospinal Fluid Biomarkers

  • 期刊论文

  • 发表日期：

    2025年6月1日

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  • K. V. Nevzorova,
  • Yu. A. Shpilyukova,
  • E. Yu. Fedotova,
  • A. G. Burmak,
  • A. A. Shabalina,
  • S. N. Illarioshkin

摘要

Objectives. To estimate the detection rate of Alzheimer’s disease (AD) confirmed using cerebrospinal fluid (CSF) biomarkers in a cohort of patients with the classical (amnestic) and atypical phenotypes of this disease. Materials and methods. The study included 63 patients (24 men and 39 women; median age 65 years [60; 71]). The patients were divided into three groups depending on phenotype: the classical amnestic phenotype (n = 32), common non-amnestic phenotypes (n = 21), and rare non-amnestic phenotypes (n = 10). All patients underwent lumbar puncture with subsequent investigation of biomarkers in CSF (β-amyloid 1–42 (Aβ1–42) and phosphorylated tau protein 181 (p-tau181)) to confirm AD pathology. Clinical features were assessed in each of the studied subgroups. Results. Changes in CSF biomarkers, with a decrease in Aβ1–42 in combination with an increased level of p-tau181, were found in 36 (57.1%) patients. Changes in at least one biomarker were detected in 54 (85.7%) patients. The highest frequency of Alzheimer’s-type pathology was found in patients from the group with predominance of amnestic disorders (87.5%), and in the subgroups with the logopenic variant of primary progressive aphasia (100%) and posterior cortical atrophy syndrome (100%). In the group with rare phenotypes, the detection rate of CSF changes typical of AD was 50% for patients with predominance of behavioral disorders and 66.7% for those with corticobasal syndrome. Conclusions. The results obtained here demonstrated a high detection rate of CSF biomarkers typical of AD in both the classical (amnestic) form and atypical phenotypes. This points to the need to expand the use of AD biomarker studies in CSF for more reliable assessment of the prevalence of AD in Russia.