A5088621206- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Psychology and Mental Health
- Management of metastatic bone disease
- Antifungal resistance and susceptibility
- Head and Neck Surgical Oncology
- Palliative and Oncologic Care
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Fungal Infections and Studies
- Ophthalmology and Eye Disorders
- Advanced Neuroimaging Techniques and Applications
- Meningioma and schwannoma management
- Genetics and Neurodevelopmental Disorders
- Cerebral Palsy and Movement Disorders
Universidade Estadual de Campinas (UNICAMP)
2014-2021
Zero to Three
2021
Hospital de Clínicas
2018
Hospital de Clínicas da Unicamp
2015
Hospital de Base
2011
Domus Medica
2011
ABSTRACT Background Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that brain is also affected. Despite this, little known about signature HSPs, particular regarding stratification for specific genetic subtypes. Objective We aimed to characterize cerebral and cerebellar five HSP subtypes (9 SPG3A, 27 SPG4, 10 SPG7, 9 SPG8, 29 SPG11) uncover clinical gene expression correlates. Methods obtained...
Abstract Background Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT‐A) is not well elucidated. The objective of current study was to evaluate efficacy safety BoNT‐A in patients hereditary paraplegias. Methods This a double‐blind, randomized, placebo‐controlled crossover trial. Each participant randomly assigned receive 1 injection session either (100 IU/2 mL...
Background and purpose Non‐motor manifestations are frequently overlooked in degenerative disorders little is known about their frequency clinical relevance SPG4 hereditary spastic paraplegia (SPG4‐HSP). Methods Thirty patients with SPG4‐HSP 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Brief Pain Inventory Beck Depression Inventory. Student's t test was used to compare groups linear regression assess correlations. Results Patients had higher fatigue...
ABSTRACT Hereditary spastic paraplegias (HSP) are characterized by progressive lower limb weakness and spasticity. There no validated instruments to quantify disease severity in Portuguese. Objective To translate validate the Spastic Paraplegia Rating Scale (SPRS) into Brazilian-Portuguese. Method Two experienced English-fluent neurologists translated SPRS Portuguese, creating SPRS-BR. We then assessed inter intra-rater reliability of this version using coefficients correlation variability a...
ABSTRACT Motor and non-motor manifestations are common disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity may improve gait in these patients. Little known about the effects Btx-A on symptoms HSP Objective To assess efficacy motor Methods Thirty-three adult patients with a clinical molecular diagnosis were evaluated before after injections. Results Mean age was 41.7 ± 13.6 years there 18 women. Most had pure...
<h3>BACKGROUND AND PURPOSE:</h3> Spinal cord damage is a hallmark of hereditary spastic paraplegias, but it still not clear whether specific subtypes the disease have distinctive patterns spinal gray (GM) and white (WM) matter involvement. We compared cervical cross-sectional GM WM areas in patients with distinct paraplegia subtypes. also assessed these metrics correlated clinical parameters. <h3>MATERIALS METHODS:</h3> analyzed 37 (17 men; mean age, 47.3 [SD, 16.5] years) 21 healthy...
Resumo Introdução: A base do crânio é uma região que pode ser afetada por diferentes tipos de tumores. Os tumores dessa podem benignos ou malignos e se localizarem na cavidade anterior, média posterior crânio. Embora relativamente raras, essas lesões afetar significativamente os pacientes em virtude sua localização anatômica complexa riscos próprios manejo cirúrgico. qualidade vida operados da prejudicada não somente pelo comprometimento neurológico resultante lesão anatômica, mas também...
Objective: To investigate the integrity of dopaminergic system in patients with SPG11 and correlate it clinical findings. Background: Dopamine transporter (DAT) single-photon emission computer tomography (SPECT) imaging is a technique that enables vivo assessment nigrostriatal function. Dopa-responsive parkinsonism occasionally found but often difficult to assess clinically due severe corticospinal motor impairment. Methods: DAT using SPECT radioligand [99mTc]-TRODAT-1 was performed 6 (from...
Objective: To evaluate the frequency and severity of non-motor symptoms in SPG4-HSP, especially fatigue, pain, depression excessive daytime sleepiness. Background: Mutations SPG4 gene are most frequent cause hereditary spastic paraplegia (HSP). SPG4-HSP is characterized by slowly progressive spasticity weakness legs. Additional have been reported occasional patients with but no systematic evaluation such manifestations has performed yet. Design/Methods: Twenty seven molecular confirmation...