Publications by authors named "Aurora Cermelli"

Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia, caused by heterozygous trinucleotide repeat expansions encoding glutamine in the TATA box-binding protein (TBP) gene.

Case Description: We describe the clinical history, neuropsychological, and neuroimaging findings of a 42-year-old patient who presented for medical attention showing prevalent behavioral and cognitive problems along with progressively worsening gait disturbances. The patient's family history indicated the presence of SCA17 in the maternal lineage.

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Objective: In this systematic review and meta-analysis, we critically evaluate available evidence regarding the association between primary headaches and subsequent decline of cognitive function and dementia.

Background: Recent studies suggested that headache disorders may increase the risk for dementia. However, available studies are conflicting.

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We describe a 52-year-old patient with a progressive visuospatial disorder and apraxia. Neuropsychological assessment, neuroradiological findings, and Alzheimer's disease (AD) core biomarker assay on cerebrospinal fluid led to a diagnosis of posterior cortical atrophy due to AD. We performed a next generation sequencing dementia-gene panel and found the c.

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Migraine is a common neurovascular disorder characterized by recurrent episodes of headache and associated neurological symptoms. At present, a significant portion of patients do not obtain a satisfactory response to acute pain-relieving therapies, including NSAIDs and triptans. In this context, pharmacogenetics plays a key role in the understanding of such a diverse response.

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The identification of reliable biomarkers in biological fluids is paramount to optimizing the diagnosis of Alzheimer’s disease (AD). Measurement of Aβ42, t-tau, and p-tau in cerebrospinal fluid (CSF) is the most accepted method to support the diagnosis of AD. However, lumbar puncture represents an invasive investigation, whereas saliva is one of the most accessible body fluids.

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Several studies have revealed defects in autophagy in neurodegenerative disorders including Alzheimer's disease (AD) and frontotemporal dementia (FTD). /p62 plays a key role in the autophagic machinery and may serve as a marker for autophagic flux in vivo. We investigated the role of p62 in neurodegeneration, analyzing its concentrations in the CSF of AD and FTD patients.

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Article Synopsis
  • - The study aims to evaluate the presence of synaptic damage biomarkers in individuals with Alzheimer's disease (AD) compared to cognitively unimpaired (CU) people through a systematic review and meta-analysis.
  • - After reviewing 204 articles, 23 studies were included in the systematic review and 15 in the meta-analysis, revealing significant increases in the cerebrospinal fluid levels of Neurogranin, SNAP-25, and GAP-43 in AD patients compared to CU individuals.
  • - The findings suggest that these synaptic biomarkers could help in diagnosing AD, but the current research is relatively limited and shows a lot of variation in results across studies.
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Objectives: To explore the pathogenetic hypothesis provided to explain the comorbidity of anxious and depressive symptomatology and AD and to assess the association between anxious and depressive symptoms and the AD-related cognitive impairment.

Methods: In October 2020 and March 2021, PsycINFO, Embase, Ovid, and CINAHL were searched for peer-reviewed original articles investigating anxiety and/or depression in AD.

Results: A total of 14,760 studies were identified and 34 papers on AD patients were included in the review.

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Background: Headache is a frequent symptom of the novel coronavirus 19 disease (COVID-19). To date, there are limited information on how COVID-19 affects migraine and its treatment.

Case Description: A 47-year-old patient, suffering from chronic migraine and medication-overuse headache, in September 2020 started erenumab at 70 mg once monthly.

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