A5042568203- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Parkinson's Disease Mechanisms and Treatments
- RNA Research and Splicing
- Amyotrophic Lateral Sclerosis Research
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- RNA regulation and disease
- DNA Repair Mechanisms
- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Genomic variations and chromosomal abnormalities
- Neuroinflammation and Neurodegeneration Mechanisms
- Cystic Fibrosis Research Advances
- Neurology and Historical Studies
- interferon and immune responses
- Peroxisome Proliferator-Activated Receptors
- Herpesvirus Infections and Treatments
- History of Medical Practice
- Neuroscience of respiration and sleep
- Nuclear Receptors and Signaling
- Cellular transport and secretion
- Cytomegalovirus and herpesvirus research
Istituto Neurologico Mediterraneo
2015-2024
University of Urbino
2023
Given the heterogeneous nature of frontotemporal dementia (FTD), sensitive biomarkers are greatly needed for accurate diagnosis this neurodegenerative disorder. Circulating miRNAs have been reported as promising disorders and processes affecting central nervous system, especially in aging. The objective study was to evaluate if some circulating linked with apoptosis (miR-29b-3p, miR-34a-5p, miR-16-5p, miR-17-5p, miR-107, miR-19b-3p, let-7b-5p, miR-26b-5p, 127-3p) were able distinguish...
Background . Parkinson’s disease (PD) is mostly characterized by alpha-synuclein ( SNCA ) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel multiplication described in two siblings affected severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, cognitive deterioration. Methods dosage was performed using High-Density Comparative Genomic Hybridization Array (CGH-Array), Multiple Ligation Dependent Probe Amplification (MLPA),...
High repeat expansion (HRE) alleles in
Polynucleotide kinase 3'-phosphatase (PNKP), an essential DNA end-processing enzyme in mammals with and 5'-kinase activities, plays a pivotal role multiple repair pathways. Its functional deficiency has been etiologically linked to various neurological disorders. Recent reports have shown that mutation at conserved glutamine (Gln) PNKP leads late-onset ataxia oculomotor apraxia type 4 (AOA4) humans embryonic lethality pigs. However, the molecular mechanism underlying such phenotypes remains...
Genetic mutations of sporadic hemiplegic migraine (SHM) are mostly unknown. SHM pathophysiology relies on cortical spreading depression (CSD), which might be responsible for ischemic brain infarction. Cystic fibrosis (CF) is caused by a monogenic mutation the chlorine transmembrane conductance regulator ( CFTR ), possibly altering excitability. We describe case patient with CF, who had migrainous stroke during an attack. A 32‐year‐old Caucasian male was diagnosed heterozygotic delta...
Abstract Background Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which defined as hypomyelinating or demyelinating based on disease severity assessed at MRI. Recently, a group of clinically overlapping leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits. Case presentation In this manuscript, we describe two Italian siblings carrying novel POLR3A genotype. MRI imaging, genetic analysis, and...
X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and cerebral demyelinating form of X-ALD (cerebral ALD). The disease caused defects in gene for adenosine triphosphate (ATP)-binding cassette protein, subfamily D (ABCD1) that encodes transporter very-long-chain fatty acids (VLCFAs). defective function ABCD1 protein prevents β-oxidation VLCFAs, which thus accumulate tissues...
Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4 (AOA4) caused by mutations repair factor polynucleotide kinase phosphatase (PNKP), which encodes for processing enzyme also other syndromes featured microcephaly or neurodegeneration. To date, only few AOA4 patients have been reported worldwide....
ABSTRACT Background and Objective Early‐onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next‐generation sequencing (NGS) of PD‐associated multigene panels. However, NGS interpretation can be challenging in setting, few studies have this issue so far. Methods We retrospectively collected data from 648 PD age at onset younger than 55 years who underwent minimal shared panel 15 PD‐related genes, as...
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited motor sensory neuropathy, which clusters a clinically and genetically heterogeneous group of disorders with more than 90 genes associated different phenotypes. The goal this study to identify genetic features in recruited cohort patients, highlighting role rare variants genotype-phenotype correlation. We enrolled 67 patients applied diagnostic protocol including multiple ligation-dependent probe amplification for copy number...
<i>APP</i> gene mutations causing Alzheimer disease (AD) segregate in an autosomal dominant pattern. We report on a 40-year-old woman with severe cognitive decline starting at 36 years, while her affected relatives presented symptoms onset the 6th decade. The proband carried missense variant homozygous state (NM_000484.4: c.2032G&#x3e;A; NP_000475.1: p.Asp678Asn; rs63750064) and showed more clinical picture than other AD relatives, as regards age of rate progression. This...
Pure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze variants in SPG4 patients highlight the occurrence splicing and combine functional studies assess relevance these molecular mechanisms disease.We performed an NGS panel 105 patients, silico analysis for mutations, vitro minigene assay.The was applied screen carrying a clinical phenotype corresponding upper motor neuron syndrome (UMNS), selectively affecting control lower...
In the last few years, polymerase chain reaction analysis is frequently required to improve detection of pathogen infections in central nervous system as a potential cause neurological disorders and neuropsychiatric symptoms.The goal this paper set up fast, cheap reliable molecular approach for qualitative six neurotropic pathogens.A method based on PCR has been designed implemented guarantee DNA herpes simplex virus types 1 2 (HSVI/II), Epstein-Barr (EBV), cytomegalovirus (CMV),...
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations in _CLCN_1gene, and can be inherited either autosomal dominant (Thomsen disease) or recessive (Becker forms. Here we describe a 46-year-old male patient affected congenita. Genetic analysis identified mutation p.Val536Ile, structural suggests pathological role for this variant. In fact, presence bulky residue place valine 536, such as leucine isoleucine, may generate interactions with Tyr578, thus altering...