Mariana Spitz

Bio: Mariana Spitz is an academic researcher from University of São Paulo. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 1, co-authored 1 publications receiving 1369 citations. Previous affiliations of Mariana Spitz include University of Tübingen.

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

Abstract: Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson's disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel–Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of p...

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Abstract: As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial‐ready cohorts is limited.

Thanks to Editorial Board of Arquivos de Neuro-Psiquiatria

Abstract: Thieme Revinter Publicações Ltda., Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Adriana Bastos Conforto Alexandra Prufer Queiroz Campos Araújo Ana Carolina Coan Analuiza Camozzato Antonio José da Rocha Antonio Lucio Teixeira Camila Callegari Carlos Henrique Ferreira Camargo Carlos Otto Heise Carolina de Medeiros Rimkus Celi dos Santos Andrade Chien Hsin Fen Clarissa Lin Yasuda Cristiane Nascimento Soares Dalva Lucia Rollemberg Poyares Daniel Ciampi de Andrade Douglas Kazutoshi Sato Edmar Zanoteli Eduardo Genaro Mutarelli Eliasz Engelhardt Elisa de Paula França Resende Ethel Mizrahy Cuperschmid Eva Carolina Rocha Fabio A. Nascimento Fabíola Dach Fernando Morgadinho Santos Coelho Fernando Tensini Francisco de Assis Aquino Gondim Gabriel Rodriguez de Freitas Grace Schenatto Pereira Moraes Michael Hornberger Mônica Sanches Yassuda Octávio Marques Pontes Neto Orlando Povoas Barsottini Paulo José Lorenzoni Paulo Pereira Christo Pedro Andre Kowacs Pedro Sampaio Iscia Teresinha Lopes Cendes Jamary Oliveira Filho João Brainer Clares de Andrade José Luiz Pedroso Juliana Gurgel-Giannetti Karen Nunez-Wallace Karina Braga Gomes Laura Silveira Moriyama Lea Tenenholz Grinberg Leandro Tavares Lucato Lecio Figueira Pinto Leonardo Cruz de Souza Luciano De Paola Luciene Covolan Luís Otávio Sales Ferreira Caboclo Magda Lahorgue Nunes Marcondes Cavalcante França Jr Marcos Christiano Lange Maria Fernanda Mendes Mariana Spitz Mario Fernando Prieto Peres Marzia Puccioni-Sohler Péricles Maranhão Filho Renato Puppi Munhoz Rosana Cardoso Alves Rosana Hermínia Scola Sarah Teixeira Camargos Sérgio Monteiro de Almeida Sérgio Rosemberg Sheila Cristina Ouriques Martins Sônia Maria Dozzi Brucki Suzana Maria Fleury Malheiros Sylvie Devalle Tarso Adoni Vitor Tumas Vivaldo Moura Neto Wilson Marques Jr. Yara Dadalti Fragoso (In Memoriam) Ylmar Correa Neto THIEME

Diagnosis and management of Parkinson’s disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology

Abstract: ABSTRACT Parkinson’s disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke’s Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.

Thanks to Editorial Board of Arquivos de Neuro-Psiquiatria.

Abstract: Thieme Revinter Publicações Ltda., Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Adriana Bastos Conforto Alexandra Prufer Queiroz Campos Araújo Ana Carolina Coan Analuiza Camozzato Antonio José da Rocha Antonio Lucio Teixeira Camila Callegari Carlos Henrique Ferreira Camargo Carlos Otto Heise Carolina de Medeiros Rimkus Celi dos Santos Andrade Chien Hsin Fen Clarissa Lin Yasuda Cristiane Nascimento Soares Dalva Lucia Rollemberg Poyares Daniel Ciampi de Andrade Douglas Kazutoshi Sato Edmar Zanoteli Eduardo Genaro Mutarelli Eliasz Engelhardt Elisa de Paula França Resende Ethel Mizrahy Cuperschmid Eva Carolina Rocha Fabio A. Nascimento Fabíola Dach Fernando Morgadinho Santos Coelho Fernando Tensini Francisco de Assis Aquino Gondim Gabriel Rodriguez de Freitas Grace Schenatto Pereira Moraes Michael Hornberger Mônica Sanches Yassuda Octávio Marques Pontes Neto Orlando Povoas Barsottini Paulo José Lorenzoni Paulo Pereira Christo Pedro Andre Kowacs Pedro Sampaio Iscia Teresinha Lopes Cendes Jamary Oliveira Filho João Brainer Clares de Andrade José Luiz Pedroso Juliana Gurgel-Giannetti Karen Nunez-Wallace Karina Braga Gomes Laura Silveira Moriyama Lea Tenenholz Grinberg Leandro Tavares Lucato Lecio Figueira Pinto Leonardo Cruz de Souza Luciano De Paola Luciene Covolan Luís Otávio Sales Ferreira Caboclo Magda Lahorgue Nunes Marcondes Cavalcante França Jr Marcos Christiano Lange Maria Fernanda Mendes Mariana Spitz Mario Fernando Prieto Peres Marzia Puccioni-Sohler Péricles Maranhão Filho Renato Puppi Munhoz Rosana Cardoso Alves Rosana Hermínia Scola Sarah Teixeira Camargos Sérgio Monteiro de Almeida Sérgio Rosemberg Sheila Cristina Ouriques Martins Sônia Maria Dozzi Brucki Suzana Maria Fleury Malheiros Sylvie Devalle Tarso Adoni Vitor Tumas Vivaldo Moura Neto Wilson Marques Jr. Yara Dadalti Fragoso (In Memoriam) Ylmar Correa Neto THIEME

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Abstract: In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. For example, a key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process versus those that measure flux through the autophagy pathway (i.e., the complete process including the amount and rate of cargo sequestered and degraded). In particular, a block in macroautophagy that results in autophagosome accumulation must be differentiated from stimuli that increase autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. It is worth emphasizing here that lysosomal digestion is a stage of autophagy and evaluating its competence is a crucial part of the evaluation of autophagic flux, or complete autophagy. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. Along these lines, because of the potential for pleiotropic effects due to blocking autophagy through genetic manipulation, it is imperative to target by gene knockout or RNA interference more than one autophagy-related protein. In addition, some individual Atg proteins, or groups of proteins, are involved in other cellular pathways implying that not all Atg proteins can be used as a specific marker for an autophagic process. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular assays, we hope to encourage technical innovation in the field.

Signals from the lysosome: a control centre for cellular clearance and energy metabolism.

Abstract: For a long time, lysosomes were considered merely to be cellular 'incinerators' involved in the degradation and recycling of cellular waste. However, now there is compelling evidence indicating that lysosomes have a much broader function and that they are involved in fundamental processes such as secretion, plasma membrane repair, signalling and energy metabolism. Furthermore, the essential role of lysosomes in autophagic pathways puts these organelles at the crossroads of several cellular processes, with significant implications for health and disease. The identification of a master regulator, transcription factor EB (TFEB), that regulates lysosomal biogenesis and autophagy has revealed how the lysosome adapts to environmental cues, such as starvation, and targeting TFEB may provide a novel therapeutic strategy for modulating lysosomal function in human disease.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Abstract: In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field.

Genetics of Parkinson’s Disease

Abstract: Fifteen years of genetic research in Parkinson’s disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD. Monogenic forms, caused by a single mutation in a dominantly or recessively inherited gene, are well-established, albeit relatively rare types of PD. They collectively account for about 30% of the familial and 3%–5% of the sporadic cases. In this article, we will summarize the current knowledge and understanding of the molecular genetics of PD. In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.