SummaryFahr syndrome is a rare neurodegenerative disorder characterized by symmetrical, bilateral calcifications in the basal ganglia, nucleus gyrus and cerebral cortex. The continuous advancement as well as widespread use of brain imaging have contributed to the increasing detection rates of such changes. Nevertheless, their etiology is understood only partially and the methods of causative treatment are limited. Due to various symptoms, Fahr syndrome may resemble diseases from the field of neurology, psychiatry, cardiology and even urology. This article provides an up-to-date review of the literature concerning Fahr syndrome in terms of clinical practice.
In the course of Alzheimer's disease (AD), early pathological changes in the brain start decades before any clinical manifestation. The concentration levels of AD cerebrospinal fluid (CSF) biomarkers, such as amyloid-β1-42 (Aβ1-42), total tau (T-tau), and phosphorylated tau (P-tau), may reflect a cerebral pathology facilitating an early diagnosis of the disease and predicting a cognitive deterioration. The aim of this study was to estimate the prevalence of AD CSF biomarkers in those individuals with a subjective cognitive decline (SCD), a mild cognitive impairment (MCI), and Alzheimer's dementia (AD-D), together with the relationships between the biomarkers, an APOE ɛ4 presence, and a verbal episodic memory performance. We included 252 patients from the memory clinic with a diagnosis of SCD (n = 85), MCI (n = 87), and AD-D (n = 80). A verbal episodic memory performance level was assessed and was based on a delayed recall trial from the 10-word list of an auditory verbal learning task (AVLT). We found that the patients with more severe cognitive impairments had significantly lower levels of Aβ1-42 and higher levels of T-tau and P-tau. This pattern was also typical for the APOE ɛ4 carriers, who had lower levels of Aβ1-42 than the noncarriers in the AD-D and MCI groups. The levels of T-tau and P-tau were significantly higher in the APOE ɛ4 carriers than in the noncarriers, but only in the MCI patients. The AVLT performance in the whole study samples was predicted by age, Aβ1-42, and the T-tau CSF biomarkers, but not by the APOE genotyping.
Volumetric measurements may help clinicians to predict MCI conversion to AD but due to low sensitivity it cannot be use separately. The study group requires further observation.
A b s t r a c t
Introduction: The aim of our study was to evaluate the usefulness of several biomarkers in predicting the conversion of mild cognitive impairment (MCI) to Alzheimer's disease (AD): β-amyloid and tau proteins in cerebrospinal fluid and the volumetric evaluation of brain structures including the hippocampus in magnetic resonance imaging (MRI).
Material and methods: MRI of the brain with the volumetric assessment of hippocampus, entorhinal cortex, posterior cingulate gyrus, parahippocampal gyrus, superior, medial and inferior temporal gyri was performed in 40 patients
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