A5014214000- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Restless Legs Syndrome Research
- Neurological diseases and metabolism
- Neurological and metabolic disorders
- Psychosomatic Disorders and Their Treatments
- Obsessive-Compulsive Spectrum Disorders
- Autism Spectrum Disorder Research
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Transcranial Magnetic Stimulation Studies
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Autoimmune Neurological Disorders and Treatments
- Cerebral Palsy and Movement Disorders
- Mitochondrial Function and Pathology
- Mental Health and Psychiatry
- Advanced Neuroimaging Techniques and Applications
- Neuroscience and Neural Engineering
- Attention Deficit Hyperactivity Disorder
- Parkinson's Disease and Spinal Disorders
- Nuclear Receptors and Signaling
University of Salerno
2014-2025
John Wiley & Sons (United States)
2023-2024
Policlinico Umberto I
2024
Naples Anesthesia & Physician Associates
2023
University of Verona
2014-2020
University College London
2013-2019
Sobell House
2013-2018
The London College
2015-2017
National Hospital for Neurology and Neurosurgery
2013-2016
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2016
Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family Parkinsonism, dystonia, cognitive deterioration. Response to levodopa was poor, limited side effects. Neuroimaging revealed brain atrophy, nigrostriatal dopaminergic defects, cerebral hypometabolism. encodes synaptojanin...
Background Alexithymia, a personality trait characterised by difficulty in identifying and expressing emotions, may contribute to the onset clinical presentation of functional motor disorders (FMDs), although this association remains underexplored. Methods From Italian Registry FMDs, we selected individuals recruited between November 2011 January 2023, diagnosed with FMD according Gupta Lang criteria assessed for various neurological psychological features validated rating scales. The main...
The variability in the clinical phenotype of Parkinson's disease seems to suggest existence several subtypes disease. To test this hypothesis we performed a cluster analysis using data assessing both motor and non-motor symptoms large cohort newly diagnosed untreated PD patients.We collected on demographic, motor, whole complex from 100 consecutive outpatients. Statistical allowed identification different subgroups, which have been subsequently explored.The driven approach identified four...
To describe the motor pattern of cataplexy and to determine its phenomenological differences from pseudocataplexy in differential diagnosis episodic falls. We selected 30 video-recorded 21 attacks 17 10 patients evaluated for suspected narcolepsy with final type 1 conversion disorder, respectively, together self-reported features, asked expert neurologists blindly evaluate features attacks. Video documented attack were contrasted. Video-recorded can be positively differentiated by occurrence...
FOG is a troublesome symptom of PD. Despite growing evidence suggesting that in PD may be associated with cognitive dysfunction, the relationship between regional brain atrophy and has been poorly investigated.Optimized VBM was applied to 3T MR images 24 patients 12 HC. Patients were classified as either FOG- or FOG+ (n = 12) based on their responses validated Questionnaire clinical observation. All also underwent detailed neuropsychological evaluation.The analysis showed reduced GM volume...
The objective of this study was to evaluate hearing impairment in patients affected by Parkinson's disease compared with scores observed normal age- and sex-matched controls. One hundred eighteen consecutive a clinical diagnosis were screened. Severity motor symptoms staging measured the Unified Disease Rating Scale (section III) Hoehn Yahr scale. Audiometric evaluation consisted comprehensive audiologic case history questionnaire, visual otoscopic examination, acoustic immittance measures...
<h3>Background</h3> Non-motor symptoms are very common among patients with Parkinson9s disease since the earliest stage, but little is known about their progression and relationship dopaminergic replacement therapy. <h3>Methods</h3> We studied non-motor before after 2 years from therapy introduction in ninety-one newly diagnosed previously untreated PD patients. <h3>Results</h3> At baseline, nearly all (97.8%) referred at least one symptom. follow-up, only few significantly changed....
Parkinson's disease (PD) patients have impairment of facial expressivity (hypomimia) and difficulties in interpreting the emotional expressions produced by others, especially for aversive emotions. We aimed to evaluate ability produce recognize others a group PD healthy participants order explore relationship between these two abilities any differences groups participants.Twenty non-demented, non-depressed twenty (HC) matched demographic characteristics were studied. The recognizing was...
Background and purpose Very little is known about the progression of non‐motor symptoms ( NMSs ) in Parkinson's disease PD there are no longitudinal studies exploring this topic from earliest stage, when patients receive diagnosis. We here report on over 4 years diagnosis a cohort de‐novo , previously untreated, with . Methods Consecutive (disease duration < 2 years), untreated were enrolled observational study. Evaluations then scheduled every included assessment motor features as well...
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's and gender differences have been described on several aspects of PD. In present commentary, we aimed to collect discuss currently available evidence in PD regarding biomarkers, genetic factors, motor non-motor symptoms, therapeutic management (including pharmacological surgical treatment) as well preclinical studies.A systematic literature review was performed by searching Pubmed Scopus databases...
Abstract The International Parkinson and Movement Disorder Society (MDS) created a task force (TF) to provide critical overview of the Parkinson's disease (PD) subtyping field develop guidance on future research in PD subtypes. Based literature review, we previously concluded that requires an ultimate alignment with principles precision medicine, consequently novel approaches were needed describe heterogeneity at individual patient level. In this manuscript, present purpose‐driven framework...
<h3>Introduction</h3> Knowledge regarding tremor prevalence and phenomenology in patients with adult-onset primary dystonia is limited. Dystonic presumably under-reported, we aimed to assess the clinical correlates of dystonia. <h3>Methods</h3> We enrolled 473 consecutive different types They were assessed for presence head arm (rest, postural kinetic). <h3>Results</h3> A total 262 (55.4%) tremulous: 196 presented tremor, 140 98 them had a combination tremor. Of all 103 (73.6%) also kinetic...