A5059544094- Genetic Neurodegenerative Diseases
- Cholesterol and Lipid Metabolism
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Drug Transport and Resistance Mechanisms
- Neurological diseases and metabolism
- Systemic Lupus Erythematosus Research
- Autoimmune Neurological Disorders and Treatments
- Parathyroid Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Medical Imaging and Pathology Studies
- Neuroscience and Neuropharmacology Research
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Trace Elements in Health
- Neurofibromatosis and Schwannoma Cases
- Thyroid and Parathyroid Surgery
- Hormonal Regulation and Hypertension
- Ion channel regulation and function
- Neurological and metabolic disorders
- Steroid Chemistry and Biochemistry
- interferon and immune responses
- Vascular Malformations and Hemangiomas
- DNA Repair Mechanisms
University of Siena
2016-2025
Azienda Ospedaliera Universitaria Senese
2021-2025
Center for Neurosciences
2023
Don Carlo Gnocchi Foundation
2017
University of Rome Tor Vergata
2016
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...
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal diseases: hereditary sensory and autonomic neuropathy with dementia hearing loss type IE (HSAN IE) cerebellar ataxia, deafness narcolepsy (ADCA-DN). Patients underwent genetic analysis gene, neurophysiological tests investigating sleep, auditory functions peripheral nervous system, ophthalmological studies...
Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits application. Extracellular microRNAs emerging humoral preliminary studies identified a group of miRNAs that deregulated in the plasma or serum small groups DM1 patients. Here we adopted very stringent selection normalization criteria validate disprove these 103 patients 111 matched controls. We...
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience diagnostic delay. Although early diagnosis and treatment initiation can improve symptoms prognosis, standardised approach to diagnosis, management of patients not yet established. Aim To assess expert opinion on best care practices for using modified Delphi method. Methods A multidisciplinary group healthcare...
Abstract Objective To evaluate the safety and effectiveness of chenodeoxycholic acid (CDCA) treatment in patients with cerebrotendinous xanthomatosis (CTX). Methods Two retrospective cohort studies were conducted CTX who underwent CDCA treatment: one Netherlands (NL; CDCA-STUK-15-001) Italy (IT; CDCA-STRCH-CR-14-001). Eligible aged 2–75 years, had been diagnosed CTX, treated orally for ≥1 year. The impact on biochemical markers (including serum cholestanol levels) disease signs symptoms...
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)...
The Zellweger spectrum disorders (ZSDs) are known to be severe with onset in the newborn period or later childhood, frequently resulting death during childhood adolescence. Here, we report a case of ZSD due mutations PEX2 gene, very mild phenotype. A 51-year-old Italian man was referred us because clinical picture characterized by ataxia, areflexia, nystagmus, and strabismus, slowly progressive course. patient showed no cognitive impairment. Neurological examination revealed gait dysarthria,...
ABSTRACT Background Primary familial brain calcification (PFBC) is a rare autosomal dominant disorder with bilateral of basal ganglia and other cerebral regions, movement disorders, neuropsychiatric disturbances. So far, three causative genes have been discovered: SLC20A2 , PDGFRB PDGFB accounting for approximately 50% cases. Methods Seven unrelated families primary were recruited to undergo clinical genetic analysis, including Sanger sequencing PDGFRB, copy number analysis . Results...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and multiple progressive neurological dysfunctions. More than 300 patients with have been reported to date worldwide about fifty different mutations identified in CYP27A1 gene. This study describes the clinical laboratory findings seven new patients.We report molecular...
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation toxic metabolites in various organs, particularly brain and tendons. Most cases are diagnosed treated the second or third decade life, when neurological involvement appears. We describe a case CTX presenting as neonatal cholestasis. Results: The child presented cholestasis at two months life. In following jaundice slowly disappeared, with normalization bilirubin...