LEANDRO TAVARES LUCATO
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Radiologia, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
11 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 11
- Teaching NeuroImages: Limbic encephalitis associated with relapsing polychondritis(2016) SIMABUKURO, Mateus Mistieri; LUCATO, Leandro Tavares; SHINJO, Samuel Katsuyuki; FLORES, Wellington Lima; CASTRO, Luiz Henrique MartinsA 43-year-old man presented with subacute fever, costochondritis, headache, seizures, and amnesia. Brain MRI (figure) showed bilateral temporal lobe hyperintensities. CSF revealed 105 white cells/mm(3) (77% lympho-monocytes), elevated protein, and normal glucose. Infection and paraneoplastic/autoimmune workup was negative. He improved after corticosteroid treatment.
- A novel GFAP mutation in a type II (late-onset) Alexander disease patient(2016) PAIVA, Anderson Rodrigues Brandao de; FREUA, Fernando; LUCATO, Leandro Tavares; PARMERA, Jacy; DORIA, Denise; NOBREGA, Paulo Ribeiro; OLAVIO, Thiago Rosa; MACEDO-SOUZA, Lucia Ines; KOK, Fernando
- A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability(2016) FIGUEIREDO, T.; MELO, U. S.; PESSOA, A. L. S.; NOBREGA, P. R.; KITAJIMA, J. P.; RUSCH, H.; VAZ, F.; LUCATO, L. T.; ZATZ, M.; KOK, F.; SANTOS, S.The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a field study performed in a highly inbred area of Northeastern Brazil, we identified and investigated a large consanguineous family with nine adult members affected by severe ID associated with disruptive behavior. The Genome-Wide Human SNP Array 6.0 microarray was used to determine regions of homozygosity by descent from three affected and one normal family member. Whole-exome sequencing (WES) was performed in one affected patient using the Nextera Rapid-Capture Exome kit and Illumina HiSeq2500 system to identify the causative mutation. Potentially deleterious variants detected in regions of homozygosity by descent and not present in either 59 723 unrelated individuals from the Exome Aggregation Consortium (Browser) or 1484 Brazilians were subject to further scrutiny and segregation analysis by Sanger sequencing. Homozygosity-by-descent analysis disclosed a 20.7-Mb candidate region at 8q12.3-q21.2 (lod score: 3.11). WES identified a homozygous deleterious variant in inositol monophosphatase 1 (IMPA1) (NM_005536), consisting of a 5-bp duplication (c.489_493dupGGGCT; chr8: 82,583,247; GRCh37/hg19) leading to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregated with the disease in 26 genotyped family members. The IMPA1 gene product is responsible for the final step of biotransformation of inositol triphosphate and diacylglycerol, two second messengers. Despite its many physiological functions, no clinical phenotype has been assigned to this gene dysfunction to date. Additionally, IMPA1 is the main target of lithium, a drug that is at the forefront of treatment for bipolar disorder.
- Which factors are associated with global cognitive impairment in Wilson's disease?(2016) FROTA, Norberto Anízio Ferreira; BARBOSA, Egberto Reis; PORTO, Claudia Sellitto; LUCATO, Leandro Tavares; ONO, Carla Rachel; BUCHPIGUEL, Carlos Alberto; MACHADO, Alexandre Aluizio Costa; CARAMELLI, PauloABSTRACT Background: Patients with Wilson's disease (WD) present cognitive impairment, especially in executive functions. Which other factors might be associated with global cognitive decline in these patients remains unclear. Objective: To assess which factors are associated with worse performance on a global cognitive test in patients with WD. Methods: Twenty patients with WD underwent cognitive assessment with the following tests: the Mini-Mental State Examination (MMSE), Dementia Rating Scale (DRS), verbal fluency test, brief cognitive battery, clock drawing test, Frontal Assessment Battery, Stroop test, Wisconsin card sorting test, Hopper test, cubes (WAIS) and the Pfeffer questionnaire. MRI changes were quantified. Patients with poor performance on the DRS were compared to patients with normal performance. Results: Nine patients had a poor performance on the DRS. This group had lower educational level (9.11±3.58 × 12.82±3.06) and a greater number of changes on MRI (9.44±2.74 × 6.27±2.45). The presence of hyperintensity in the globus pallidus on MRI was more frequent in this group (66.6% vs 9.0%), with OR=5.38 (95% CI 0.85-33.86). Conclusion: Global cognitive impairment was prevalent in this sample of patients with WD and was associated with low educational level, number of changes on MRI and MRI hyperintensity in the globus pallidus.
bookPart Neuroimagem na Doença dos Pequenos Vasos Cerebrais: Atualiddes e Novos Conceitos(2016) LUCATO, Leandro Tavares- Imaging findings in faciobrachial dystonic seizures associated with LGI-1 antibodies(2016) GRATIVVOL, Ronnyson Susano; SIMABUKURO, Mateus Mistieri; SPERA, Raphael Ribeiro; CAVALCANTE, Wagner Cid Palmeira; ARAUJO, Hugo Henrique Soares; SAKUNO, Daniel; LUCATO, Leandro Tavares; PINTO, Lecio Figueira; CASTRO, Luiz Henrique Martins; NITRINI, Ricardo
bookPart Diagnóstico por Imagem em Nerurologia(2016) LEITE, Claudia da Costa; NAGAE, Lídia Mayumi; MARTIN, Maria da Graça Morais; CALDAS, José Guilherme Pereira; JúNIOR, Edson Amaro; LUCATO, Leandro TavaresbookPart Diagnóstico por Imagem nas Doenças do Hipotálamo-hipófise(2016) KODAIRA, Sergio Keidi; LUCATO, Leandro TavaresconferenceObject AMPA Receptor Antibody Encephalitis in a Young Man Associated with Atypical Findings. Case report(2016) PINTO, Lecio; SIMABUKURO, Mateus; SPERA, Raphael; PARK, Marcelo; PAQUISI, Arlindo; PEDRUCI, Lucas; KUKITA, Camila; LUCATO, Leandro; CASTRO, Luiz; NITRINI, RicardoconferenceObject GABAa - Receptor and LGI1 Antibody Encephalitis in a Patient with Thymoma(2016) SIMABUKUROZ, Mateus; PETIT-PEDROL, Mar; LUCATO, Leandro; CASTRO, Luiz; NITRINI, Ricardo