Navegando por Autor "Pedroso, José Luiz"

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Acute foot drop syndrome mimicking peroneal nerve injury: an atypical presentation of ischemic stroke
(Elsevier, 2014) Figueiredo, Marcelo Marinho de; Ricarte, Irapuá Ferreira; Fukuda, Thiago Gonçalves; Pedroso, José Luiz; Silva, Gisele Sampaio
Foot drop syndrome is a frequent neurologic condition usually caused by peroneal nerve damage. On rare occasions, foot drop may present as the single neurologic manifestation of intracranial lesions. We presented a 43-year-old man admitted to our hospital with acute weakness in the dorsiflexion of his right foot that appeared 3 days before admission. Brain magnetic resonance imaging diffusion-weighted sequence revealed a small area of restricted diffusion in the left frontal cortex. Three months later, his motor deficit had completely improved (modified Rankin scale score 5 0). To our knowledge, this is the second report of sudden isolated foot drop caused by a cortical infarction.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
(Elsevier, 2020-11-03) Godeiro Junior, Clécio de Oliveira; Gama, Maria Thereza D.; Braga-Neto, Pedro; Rangel, Deborah M.; Silva, Rodrigo de Alencar e; Embiruçu, Emília K.; Cornejo-Olivas, Mario; Sarapura-Castro, Elison; Awad, Paula Saffie; Chesta, Daniela Muñoz; Kauffman, Marcelo; Quiroga, Sergio Rodriguez; Jardim, Laura B.; Graça, Felipe F. da; França Junior, Marcondes C.; Tomaselli, Pedro J.; Marques Junior, Wilson; Teive, Helio A.G.; Barsottini, Orlando G.P.; Pedroso, José Luiz; Synofzik, Matthis; 0000-0002-4312-1633
Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
(SciELO, 2016-04-26) Godeiro Junior, Clécio de Oliveira; Salomão, Rubens Paulo Araújo; Pedroso, José Luiz; Gama, Maria Thereza Drumond; Maciel, Ricardo Horta; Chien, Hsin Fen; Teive, Hélio A. G.; Cardoso, Francisco; Barsottini, Orlando G. P.; 0000-0002-4312-1633
A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
(SciELO, 2019) Godeiro Junior, Clécio de Oliveira; Castilhos, Raphael Machado de; Santos, José Augusto dos; Augustin, Marina Coutinho Augustin; Pedroso, José Luiz; Barsottini, Orlando; Saba, Roberta; Ferraz, Henrique Ballalai; Vargas, Fernando Regla; Salarini, Diego Zanotti; Furtado, Gabriel Vasata; Polese-Bonatto, Marcia; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; 0000-0002-4312-1633
Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.
Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
(Movement Disorders Clinical Practice, 2018-03-13) Godeiro Junior, Clécio de Oliveira; Vale, Thiago Cardoso; Afonso, Cintia Oliveira de Melo; Kok, Fernando; Pedroso, José Luiz; Barsottini, Orlando Graziani; 0000-0002-4312-1633
Progressive myoclonic epilepsy (PME) is a heterogeneous groupof disorders characterized by myoclonus, tonic-clonic seizures,and progressive neurological dysfunction, including cognitiveimpairment and taxia. PME type 8 has recently been linked toa mutation inCERS1, the gene encoding ceramide synthase 1(Cers1), a transmembrane protein of the endoplasmic reticulumthat catalyzes the biosynthesis of C18-ceramides. Ceramides arethe precursors to complex sphingolipids, which are lipids with acommon sphingoid base (also termed long chain base) backbonethat plays an essential role in cell signaling, growth, proliferation,differentiation, and apoptosis. In the central nervous system, themost highly expressed ceramide synthase is Cers1, which is partic-ularly present in neurons of neocortex, hippocampus, and cere-bellum. Diminished levels of ceramides and sphingolipidscontaining very long-chain fatty acids have been associated withmany neurodegenerative disorders, including cerebellar Purkinjecell neurodegeneration. In addition, deficiency of Cers functionhave also been linked to accumulation of lipofuscin with ubiqui-tylated proteins in many brain regions.
Selective forces related to spinocerebellar ataxia type 2
(Springer, 2018-09-15) Godeiro Junior, Clécio de Oliveira; Sena, Lucas Schenatto; Castilhos, Raphael Machado; Mattos, Eduardo Preusser; Furtado, Gabriel Vasata; Pedroso, José Luiz; Barsottini, Orlando; Amorim, Maria Marla Paiva de; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; 0000-0002-4312-1633
Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2. Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Adult subjects from families with molecular diagnosis provided data about all his/her relatives. Affected and unaffected sibs older than 65.7 years of age were used to estimate reproductive success and segregation patterns. Twenty-one SCA2 families were studied, including 1017 individuals (164 affected) who were born from 1840 to 2012. The median number of children of the non-carriers and carriers, among 99 subjects included in the reproductive success analysis, were 2 and 3 (p < 0.025), respectively. Therefore, the reproductive success of carriers was 1.5. There were 137 non-carriers (59.6%) and 93 carriers (40.4%) (p = 0.04), among subjects included in the segregation analysis. Age at onset across generations pointed to anticipation as a frequent phenomenon. We raised evidence in favor of increased reproductive success related to the carrier state at ATXN2, and segregation distortion favoring normal alleles. Since majority of normal alleles analyzed carried 22 repeats, we propose that this distortion segregation can be related to the high frequency of this allele in human chromosomes.

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Navegando por Autor "Pedroso, José Luiz"