Vincenzo Leuzzi
A5041511891- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Muscle metabolism and nutrition
- Biochemical and Molecular Research
- Neurological disorders and treatments
- DNA Repair Mechanisms
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Neonatal Health and Biochemistry
- Genetic and Kidney Cyst Diseases
- Lysosomal Storage Disorders Research
- Biotin and Related Studies
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Advanced MRI Techniques and Applications
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
Sapienza University of Rome
2016-2025
Policlinico Umberto I
2011-2023
Telethon Institute Of Genetics And Medicine
2022
University of Campania "Luigi Vanvitelli"
2022
University College London
2017-2022
National Hospital for Neurology and Neurosurgery
2022
University of L'Aquila
2022
University Medical Center Groningen
2021
Inserm
2003-2021
Université de Tours
2021
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 with tyrosine reviewed the literature. Based presenting neurological features, can be divided two phenotypes: infantile onset, progressive,...
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified new cohort patients syndrome, including, most significantly, atypical later in childhood milder disease course. We report detailed clinical features, molecular genetic findings and vitro functional investigations undertaken for adult paediatric...
Abstract Background Ataxia Teleangiectasia [AT] is a rare neurodegenerative disease characterized by early onset ataxia, oculocutaneous teleangiectasias, immunodeficiency, recurrent infections, radiosensitivity and proneness to cancer. No therapies are available for this devastating disease. Recent observational studies in few patients showed beneficial effects of short term treatment with betamethasone. To avoid the characteristic side long-term administration steroids we developed method...
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
<h3>Objective:</h3> To describe better the motor phenotype, molecular genetic features, and clinical course of <i>GNAO1</i>-related disease. <h3>Methods:</h3> We reviewed information, video recordings, neuroimaging a newly identified cohort 7 patients with de novo missense splice site <i>GNAO1</i> mutations, detected by next-generation sequencing techniques. <h3>Results:</h3> Patients first presented in early childhood (median age presentation 10 months, range 0–48 months), wide symptoms...
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey characterize dietary habits Italian adult PKU patients and identify psychological factors influencing disease perception diet. Participants (
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to complex syndrome motor, behavioral, autonomic symptoms. This retrospective study assessed the symptoms developmental outcome large international cohort patients with AADCD via physician and/or caregiver responses detailed, standardized questionnaire. Sixty-three (60% female; ages...
Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, relapsing encephalopathy ataxia (all ATP1A3). A few reports described single individuals ATP1A2/A3 severe epilepsies. Early lethal hydrops fetalis,...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients.The collected data from questionnaires literature reports. A score including degree intellectual disability, epileptic seizures, movement was developed used to classify clinical phenotype as severe, moderate, or mild. Score biochemical were assessed before during treatment with oral substitution alone...
We report the effect on complex I function of 14484 Leber's hereditary optic neuropathy (LHON) mutation affecting ND6 subunit gene. The same gene was also reported to carry another mutation, at position 14459, associated with LHON/dystonia phenotype that induces a reduction I-specific activity and increases sensitivity product decylubiquinol. Given proximity both mutations in gene, we tested specific its myxothiazol nonylbenzoquinol, inhibitors ubiquinol site, platelet submitochondrial...
Abstract No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in telangiectasia (A‐T). In a multicenter, double‐blind, randomized, placebo‐controlled crossover trial, oral betamethasone (BETA) and placebo were compared terms their as assessed with International Cooperative Ataxia Rating Scale (ICARS). this study 13 A‐T children, reduced ICARS total score by median points intent‐to‐treat population 16 per‐protocol (ie, percent decreases 28% 31%, respectively)....