FERNANDO KOK
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
11 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 11
- Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome(2012) PESSOA, Andre Luiz Santos; MONTEIRO, Amanda do Vale; QUEIROZ, Rafael Fonseca de; MALVEIRA, George Linard; KOK, FernandoThe association of leukoencephalopathy with cerebral calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 1996(1). LCC is derived from the syndrome called COATS plus or cerebroretinal microangiopathy with calcifications and brain cysts (CRMCC), reported in 1988. We report a case of an adult patient with LCC.
- High phenotypic variability in Gerstmann-Straussler-Scheinker disease(2017) SMID, Jerusa; NETO, Adalberto Studart; LANDEMBERGER, Michele Christine; MACHADO, Cleiton Fagundes; NOBREGA, Paulo Ribeiro; CANEDO, Nathalie Henriques Silva; SCHULTZ, Rodrigo Rizek; NASLAVSKY, Michel Satya; ROSEMBERG, Sergio; KOK, Fernando; CHIMELLI, Leila; MARTINS, Vilma Regina; NITRINI, RicardoGerstmann-Straussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.
- Chronic stage of Marchiafava-Bignami disease(2015) LUCATO, Leandro Tavares; FREUA, Fernando; KOK, Fernando
article 18 Citação(ões) na Scopus Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs(2011) NEVES, Eduardo Luis de Aquino; KOK, FernandoCharcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). Objective: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. Method: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. Results: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. Conclusion: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.- Imaging of adult leukodystrophies(2014) LEITE, Claudia Costa; LUCATO, Leandro Tavares; SANTOS, Germano Titoneli; KOK, Fernando; BRANDAO, Anderson Rodrigues; CASTILLO, MauricioLeukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging characteristics of the most common adult leukodystrophies.
- Dysgenesis of the posterior segment of the corpus callosum: don't miss SPG45!(2023) GUIMARAES, Daniel de Faria; ALMEIDA, Ana Luiza Viegas de; SCORTEGAGNA, Felipe Alba; NUNES, Renato Hoffmann; AMORIM, Simone Consuelo; PACHECO, Felipe Torres; KOK, Fernando; ROCHA, Antonio Jose da
- Here comes the sun: the era of genetics(2015) KOK, Fernando
- Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD)(2015) FREUA, Fernando; PARMERA, Jacy Bezerra; DORIA, Denise de Oliveira; PAIVA, Anderson Rodrigues Brandao de; MACEDO-SOUZA, Lucia Ines; KOK, Fernando
- Typical clinical and neuroimaging features in Sjogren-Larsson syndrome(2018) PAIVA, Anderson Rodrigues Brandao de; MELO, Uira Souto; FREUA, Fernando; DORIA, Denise; CABRAL, Katiane Sayao Souza; MACEDO-SOUZA, Lucia Ines; LUCATO, Leandro Tavares; KOK, Fernando
- Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group(2023) SAMPAIO, Leticia Pereira de Brito; MANREZA, Maria Luiza Giraldes de; PESSOA, Andre; GURGEL-GIANNETTI, Juliana; COAN, Ana Carolina; LINDEN JUNIOR, Helio van der; EMBIRUCU, Emilia Katiane; HENRIQUES-SOUZA, Adelia Maria de Miranda; KOK, FernandoNeuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increases with the availability of enzyme replacement therapy. A panel of nine Brazilian child neurologists combined their expertise in CLN2 with evidence from the medical literature to establish a consensus to manage this disease in Brazil. They voted 92 questions including diagnosis, clinical manifestations, and treatment of the disease, considering the access to healthcare in this country. Clinicians should suspect CLN2 disease in any child, from 2 to 4 years old, with language delay and epilepsy. Even though the classic form is the most prevalent, atypical cases with different phenotypes can be found. Electroencephalogram, magnetic resonance imaging, molecular and biochemical testing are the main tools to investigate and confirm the diagnosis. However, we have limited access to molecular testing in Brazil, and rely on the support from the pharmaceutical industry. The management of CLN2 should involve a multidisciplinary team and focus on the quality of life of patients and on family support. Enzyme replacement therapy with Cerliponase a is an innovative treatment approved in Brazil since 2018; it delays functional decline and provides quality of life. Given the difficulties for the diagnosis and treatment of rare diseases in our public health system, the early diagnosis of CLN2 needs improvement as enzyme replacement therapy is available and modifies the prognosis of patients.