Publications by authors named "Alberto Grassini"

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Previous studies suggested a role for adipokines in ageing and in several age-related diseases. The purpose of our study was to further elucidate adipokines involvement in neurodegeneration, investigating adiponectin, leptin and resistin in Alzheimer's disease (AD) and Frontotemporal Dementia (FTD). We enrolled for the study 70 subjects: 26 AD, 21 FTD, and 23 with other neurological (but not neurodegenerative) conditions (CTR, control group).

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF

Recent studies suggested that epigenetic mechanisms, including DNA methylation, may be involved in migraine pathogenesis. The calcitonin gene-related peptide (CGRP), encoded by calcitonin gene-related peptide 1 gene, plays a key role in the disease. The aim of the study was to evaluate DNA methylation of gene in patients with episodic migraine.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

We report here the first case of a young individual otherwise healthy, who presented with frequent focal seizures with impaired awareness as a possible long-term complication of severe acute respiratory syndrome coronavirus-2 infection. Seizures were documented by electroencephalography and responded clinically and neuro-physiologically to antiseizure therapy. The patient underwent an extensive investigation including cerebrospinal fluid examination, conventional and quantitative brain magnetic resonance imaging, and 18-FDG positron emission tomography.

View Article and Find Full Text PDF