A5030158561- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- RNA modifications and cancer
- Cerebrovascular and genetic disorders
- Cell Adhesion Molecules Research
- Cardiomyopathy and Myosin Studies
- ATP Synthase and ATPases Research
- Peripheral Neuropathies and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Nuclear Structure and Function
- Blood groups and transfusion
- Glycogen Storage Diseases and Myoclonus
- Skin and Cellular Biology Research
- Moyamoya disease diagnosis and treatment
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Metalloenzymes and iron-sulfur proteins
- Corneal surgery and disorders
- Intraocular Surgery and Lenses
- Erythrocyte Function and Pathophysiology
- Fetal and Pediatric Neurological Disorders
University of Siena
2016-2025
Azienda Ospedaliera Universitaria Senese
2017-2024
Nuovo Ospedale di Prato
2015-2020
University of Pisa
2019
Meyer Children's Hospital
2019
Fondazione Stella Maris
2019
University of Verona
2019
Meyer Children's Hospital
2019
Hospital of Prato
2017
Ospedale Misericordia e Dolce
2015
Abstract Objective Neurodegeneration with brain iron accumulation (NBIA) represents a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified. The spectrum neurologic associated mutations in NBIA is broad, phenotypes that range from infantile neurodegeneration and death childhood to adult‐onset parkinsonism‐dystonia. Here we report the discovery novel gene leads distinct form NBIA. Methods Using autozygosity mapping candidate sequencing,...
Abstract McLeod syndrome is caused by mutations of XK , an X‐chromosomal gene unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including nervous system, but certainly underdiagnosed. We analyzed and clinical findings 22 affected men, aged 27 to 72 years. Fifteen different were found, nine which novel, one eponymous case McLeod. Their common result predicted absence or truncation protein. All patients showed elevated levels...
Pantothenate kinase-associated neurodegeneration is a form of with brain iron accumulation, characterized by progressive movement disorder and prominent deposition in the globus pallidus. Formerly referred to as Hallervorden–Spatz syndrome, was renamed pantothenate after discovery causative gene, PANK2. Although pathological features clinically syndrome have been described, literature confounded historical use this term for nearly all conditions basal ganglia accumulation fact that...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss corticospinal tract function, lower limb spasticity, and weakness. Recent clinical use next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach HSP, but power NGS as first-tier procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential...
To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum COQ8A-ataxia in a large worldwide cohort, provide first progression data, including treatment response to Q10 (CoQ10).Cross-modal analysis multicenter cohort 59 COQ8A patients, genotype-phenotype correlations, 3D-protein modeling, vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, CoQ10 data.Fifty-nine patients (39 novel) with 44...
The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. nature vast majority SPG11 found to date suggests a loss-of-function mechanism encoded protein, spatacsin. phenotype is, cases, characterized progressive spasticity with neuropathy, cognitive impairment and thin corpus callosum brain MRI. Full neuropathological characterization has not been reported despite description >100 mutations. We describe here...
Here, we report the identification of three novel missense mutations in calsequestrin-1 (CASQ1) gene four patients with tubular aggregate myopathy. These CASQ1 affect conserved amino acids position 44 (p.(Asp44Asn)), 103 (p.(Gly103Asp)), and 385 (p.(Ile385Thr)). Functional studies, based on turbidity dynamic light scattering measurements at increasing Ca2+ concentrations, showed a reduced -dependent aggregation for protein containing p.Asp44Asn p.Gly103Asp slight increase p.Ile385Thr....
Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis condition.Sixty-six patients with hyperCKemia, referred tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted panel able coding exons and flanking intronic regions 78 genes associated limb-girdle muscular dystrophies, rhabdomyolysis,...
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral hallmarked by length-dependent axonal degeneration lower neurons without significant involvement sensory neurons. We identified patients with heterozygous nonsense mutations in the αII-spectrin gene, SPTAN1, three separate dominant neuropathy families via next-generation sequencing. Variable penetrance was noted for these two families, and phenotype severity differs greatly between patients. The mutant mRNA...
The mitochondrial DNA (mtDNA) genes MT-ATP6 and MT-ATP8 encode for subunits α 8 (A6L) of the adenosine triphosphate synthase complex. Pathogenetic variants in MT-ATP6/8 cause incurable syndromes encompassing a wide spectrum clinical features including ataxia, motor language developmental delay, deafness, retinitis pigmentosa, Leigh pattern brain MRI. Typically, higher levels mtDNA lead to more severe symptomatology although even individuals with similar mutational loads exhibit high...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS frequent region Quebec but rare elsewhere. Mutations <i>SACS</i>, encoding sacsin, a protein unknown function, are associated ARSACS. The authors identified three new <i>SACS</i> mutations two Italian patients whose phenotype closely matches that cases, without retinal striation.
The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and wide spectrum ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scenario, broadening our clinical knowledge these conditions. In this study, we employed targeted resequencing panel (TRP) large highly cohort 377 patients diagnosis HA, but no molecular on routine tests. We obtained positive result (genetic diagnosis)...
Schnyder corneal crystalline dystrophy (SCCD) comprises opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related abnormal lipid storage in the central part of cornea, especially anterior stroma, consisting mainly nonesterified cholesterol. Plasma levels are not always increased suggesting that disease may due metabolism limited cornea. We observed a family typical SCCD, 1 case mental retardation mild cerebellar hypoplasia. Results...
<h3>Background</h3> Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which leads to strokes dementia, is caused by single missense mutations or, in a few cases, small deletions the<i>NOTCH3</i>gene. These result gain or loss of 1 (or, rarely, 3) cysteine residue 34 epidermal growth factor–like repeats the extracellular amino-terminal region of<i>NOTCH3.</i> <h3>Objective</h3> To describe patient novel<i>NOTCH3</i>mutation whom clinical...
To evaluate the safety and effectiveness of Flexivue Microlens corneal inlay for improvement near vision in emmetropic presbyopic patients.Ophthalmology Department, Misericordia e Dolce Hospital, Prato, Italy.Prospective interventional case series.Corneal implantation was performed nondominant eyes using a 150 kHz femtosecond laser (iFS). Refraction, uncorrected (UNVA) corrected (CNVA) visual acuities, (UDVA) (CDVA) distance slitlamp evaluation, wavefront aberrometry, photopic mesopic...
OBJECTIVE--To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS--Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on affected members a pedigree harbouring heteroplasmic A G transition at nucleotide 3243 tRNALeu(UUR), which is usually associated with syndrome encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS). RESULTS--The proband...