A5072492254- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Systemic Lupus Erythematosus Research
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Neurological and metabolic disorders
- Cerebral Palsy and Movement Disorders
- Blood disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Head and Neck Cancer Studies
- Cerebrospinal fluid and hydrocephalus
- Stroke Rehabilitation and Recovery
- Genetics and Neurodevelopmental Disorders
- Muscle activation and electromyography studies
- Prion Diseases and Protein Misfolding
- Parkinson's Disease Mechanisms and Treatments
- Sarcoma Diagnosis and Treatment
- CNS Lymphoma Diagnosis and Treatment
- Assistive Technology in Communication and Mobility
- Lysosomal Storage Disorders Research
- Advanced Radiotherapy Techniques
- Pharmacological Effects of Medicinal Plants
- Management of metastatic bone disease
University of Florence
2020-2024
Azienda Ospedaliero-Universitaria Careggi
2022-2024
Scuola Superiore Sant'Anna
2022-2024
University of Ferrara
2024
Ludwig-Maximilians-Universität München
2023
LMU Klinikum
2023
Istituti Clinici Scientifici Maugeri
2017-2019
Don Carlo Gnocchi Foundation
2012-2018
Istituto Nazionale di Fisica Nucleare, Sezione di Bari
2017
Fondazione Salvatore Maugeri
2014-2015
Abstract We report the results of deep brain stimulation (DBS) globus pallidus internus (GPi) in 12 patients with childhood‐onset generalized dystonia refractory to medication, including 3 status dystonicus. There were 8 who had DYT1‐negative primary dystonia, 1 DYT1‐positive and symptomatic dystonia. Stimulation was effective all but patient. Dystonic postures movements axis limbs responded DBS a greater extent than oromandibular fixed dystonic postures. These findings provide further...
To present clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD), focusing on aspects that assist early diagnosis.Clinicopathologic diagnostic criteria for INAD were delineated by Aicardi Castelein 1979, but atypical cases are reported frequently little is known of the utility MRI.The authors reviewed MRI who met INAD.Symptoms onset was between 6 months 2 years age. In nine clinical course typical, rapid motor mental...
The presence of circulating antiphospholipid antibodies (aPLs) is frequently associated with thromboembolic phenomena.To investigate the prevalence aPLs, detected as lupus anticoagulant (LA) or anticardiolipin antibody (aCL), in a group unselected children idiopathic cerebral ischemia.Prospective, case series.A pediatric neurology department.Thirteen ischemia (eight stroke, three transient ischemic attacks, and two ocular ischemia). Age-matched apparently healthy served controls.LA aCL...
This work was produced as part of the activities FAPESP Research, Disseminations and Innovation Center for Neuromathematics (grant 2013/07699-0, S. Paulo Research Foundation). NLK is supported by a FAPESP postdoctoral fellowship (grant 2016/03855-5). ACR partially supported a CNPq 306251/2014-0).
We report the results of a systematic study on association antiphospholipid antibodies (aPLs) with some neurological diseases other than stroke in childhood population. Patients affected by migraine, benign intracranial hypertension (BIH) or unilateral movement disorders, such as hemichorea and hermdystonia acute-subacute onset, were screened for aPLs. None them had clinical serological evidence Systemic Lupus Erythematosus (SLE) connective tissue disease. Moderate to high levels...
We report a 13-year-old boy who developed severe, refractory dystonia–dyskinesias as an abrupt worsening of previously nonprogressive movement disorder. The movements became continuous, requiring artificial respiration and continuous sedation in the intensive-care unit. Various drugs drug combinations failed to achieve control. child was then treated successfully with bilateral pallidal (GPi) stimulation shown videotape. Four months later without medication, regained autonomous gait audible...
A group of nine patients with paroxysmal non epileptic motor disorders, onset in the first year life, is presented. The characteristics attacks define them as dystonia.
Abstract We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, adult) of neuronal ceroid‐lipofuscinosis (NCL), observed in the last 10 years at Neurological Institute Milan. Late Infantile NCL (LINCL) (8 patients, 4m/4f). Age onset: 2–4 1/2 years. Seizures (6 patients) or decline mental capacities (2 were presenting symptoms, followed by myoclonus ataxia; visual loss optic atrophy occurred 6...
We report antiphospholipid antibody positivity in three of a consecutive series 23 children presenting partial epileptic seizures. There was no clinical or serological evidence systemic lupus erythematosus other connective-tissue disease.
The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented neonatal onset of rigidity, tremor, and dystonia but no other symptoms suggestive a diffuse CNS involvement. plasma phenylalanine levels were normal. Treatment l-dopa/carbidopa, started at 1 year, was associated sustained recovery from all neurologic signs. patients homozygous for new mutation in the <i><i>GHI</i></i> gene.
SUMMARY Two children with clinical pictures of paroxysmal kinesigenic choreoathetosis and dystonic are described compared previous reports regard to diagnostic procedures, therapeutic approach prognosis. A third case, characterized by dyskinesia induced exercise associated choreiform nonprogressive signs, is also described. Such an association has not been reported previously. This unusual picture indicates the possibility intermediate forms in group suggests a relationship between motor...
A body with a focal lesion of the right cingulum, subjected to cingulectomy for removal tumour, is first case an isolated unilateral cingulum be reported. The presenting symptoms consisted serious behavioural abnormalities: lack social restraint, heightened sexuality, bulimia and aggressiveness, all which ceased after surgery. Neuropsychological tests, done before operation, provided no evidence that higher cognitive functions, including memory, were impaired.
Abstract We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol tranfer protein alleles and unique presentation as myoclonic dystonia, which was practically only symptom for 6 years before ataxia became evident. Vitamin supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated is eminently treatable. © 2002 Movement Disorder Society.
Abstract Thirty Italian patients with sporadic, early‐onset, primary dystonia were screened for the DYT1 mutation. Five positive (mean age at onset, 8 years); two had typical phenotype, a generalised also involving cranial muscles, and one segmental dystonia. In other 25 7.7 years), was in 22 remained three. Our results indicate role of mutation confirm clinical genetic heterogeneity early‐onset © 2002 Movement Disorder Society
Summary: We report a case of Lennox‐Gastaut‐type epilepsy that was followed for 3 years. The patient showed typical EEG findings and later parietotemporal astrocytoma (type II) on the left. Removal tumor by recovery child disappearance epileptic elements. RÉSUMÉ On présente ici un cas d'épilepsie du type Lennox‐Gastaut, observé pendant trois ans, qui présentait les aspects typiques et ensuite parieto‐temporal de 1'hémisphere gauche. Après L';extirpation tumeur, il y eu la guérison L';enfant...
Background . A wide range of treatments have been used to improve upper arm motor performances in children with congenital hemiplegia. Recent findings are suggesting that virtual reality based intervention could be a promising tool also pediatric rehabilitation. Methods Six patients hemiplegia (age: 4–16 years) were recruited among those treated the Child Neuropsychiatry and Rehabilitation Unit IRCCS “Santa Maria Nascente” (Milan, Italy), for preliminary investigation about using...
We report the electroclinical and neuropathologic correlations in 2 children aged 2.5 months affected by early myoclonic encephalopathy characterized epileptic seizures, erratic myoclonus, an EEG pattern of burst suppression. Despite different etiologies, findings showed similar abnormalities both cases, with no substantial impairment myelination processes. Islands matrix tissue scattered periventricular region neurons aligned marginally bulbar olives were detected. The presence numerous...
Abstract A 9‐year‐old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined mental deterioration and behavioral disturbances. The values β‐hexosaminidase activities studied in plasma, leukocytes, fibroblasts obtained using two different substrates (MUG‐NAc MUG‐NAc‐6‐S) were significantly reduced but higher than Tay–Sachs disease similar to those found juvenile chronic form GM2 gangliosidosis. With anticholinergic therapy, for 1.5 dystonic symptoms did not...