Verónica Martínez‐Cerdeño

Shriners Hospitals for Children - Northern California

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Stephen C. Noctor

University of California, Davis

Randi J. Hagerman

University of California, Davis

Jeanelle Ariza

Shriners Hospitals for Children - Northern California

Paul J. Hagerman

University of California, Davis

Carmen Falcone

Scuola Internazionale Superiore di Studi Avanzati

Brett D. Dufour

University of California, Davis

Arnold R. Kriegstein

Broad Center

Flora Tassone

University of California, Davis

María Jimena Salcedo‐Arellano

University of California, Davis

Tiffany Hong

Shriners Hospitals for Children - Erie

Cooperative Institutions

University of California, Davis

152

Shriners Hospitals for Children - Northern California

University of California Davis Medical Center

Shriners Hospitals for Children - Erie

UC Davis Health System

Centre National de la Recherche Scientifique

Inserm

University of California, Los Angeles

McGill University

Johns Hopkins University

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Iron accumulation and dysregulation in the putamen in fragile X‐associated tremor/ataxia syndrome

Movement Disorders (2017)

Jeanelle Ariza Hailee Rogers Anna Hartvigsen Melissa Snell Michael T. Dill

Abstract Background : Fragile X‐associated tremor/ataxia syndrome is an adult‐onset disorder associated with premutation alleles of the FMR1 gene. This disorder is characterized by progressive action tremor, gait ataxia, and cognitive decline. Fragile X‐associated tremor/ataxia syndrome pathology includes dystrophic white matter and intranuclear inclusions in neurons and astrocytes. We previously demonstrated that the transport of iron into the brain is altered in fragile X‐associated tremor/ataxia syndrome; therefore, we also expect an alteration of iron metabolism in brain areas related to motor control. Iron is essential for cell metabolism, but uncomplexed iron leads to oxidative stress and contributes to the development of neurodegenerative diseases. We investigated a potential iron modification in the putamen ‐ a structure that participates in motor learning and performance ‐ in fragile X‐associated tremor/ataxia syndrome. Methods : We used samples of putamen obtained from 9 fragile X‐associated tremor/ataxia syndrome and 9 control cases to study iron localization using Perl's method, and iron‐binding proteins using immunostaining. Results : We found increased iron deposition in neuronal and glial cells in the putamen in fragile X‐associated tremor/ataxia syndrome. We also found a generalized decrease in the amount of the iron‐binding proteins transferrin and ceruloplasmin, and decreased number of neurons and glial cells that contained ceruloplasmin. However, we found increased levels of iron, transferrin, and ceruloplasmin in microglial cells, indicating an attempt by the immune system to remove the excess iron. Conclusions : Overall, found a deficit in proteins that eliminate extra iron from the cells with a concomitant increase in the deposit of cellular iron in the putamen in Fragile X‐associated tremor/ataxia syndrome. © 2017 International Parkinson and Movement Disorder Society

Putamen

Ceruloplasmin

Gait Ataxia

10.1002/mds.26902

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Citations (37)

Síndrome X frágil: presentación clínica, patología y tratamiento

Gaceta Médica de México (2019)

María Jimena Salcedo‐Arellano Randi J. Hagerman Verónica Martínez‐Cerdeño

ResumenEl síndrome X frágil es la condición monogenética que produce más casos de autismo y de discapacidad intelectual.La repetición de tripletes CGG (> 200) y su metilación conllevan el silenciamiento del gen FMR1.La proteína FMRP (producto del gen FMR1) interacciona con los ribosomas, controlando la traducción de mensajeros específicos y su pérdida produce alteraciones de la conectividad sináptica.El tamizaje de síndrome X frágil se realiza por reacción en cadena de la polimerasa.La recomendación actual de la Academia Americana de Pediatría es realizar pruebas a quienes presenten discapacidad intelectual, retraso global del desarrollo o antecedentes familiares de afección por la mutación o premutación.Países hispanos como Colombia, Chile y España reportan altas prevalencias de síndrome X frágil y han creado asociaciones o corporaciones nacionales de X frágil que buscan acercar a los pacientes a redes disponibles

Fragile X Syndrome

FMR1

10.24875/gmm.19005275

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Citations (28)

Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome

Neuron (2023)

Mehdi Hooshmandi Vijendra Sharma Carolina Thörn Pérez Rapita Sood Konstanze Krimbacher

Fragile X Syndrome

10.1016/j.neuron.2023.06.017

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FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration

Annals of Neurology (2023)

Brett D. Dufour Trevor Bartley Erin McBride Erik Allen Yingratana McLennan

Objective Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a late‐onset progressive genetic neurodegenerative disorder that occurs in FMR1 premutation carriers. The temporal, spatial, and cell‐type specific patterns of neurodegeneration in the FXTAS brain remain incompletely characterized. Intranuclear inclusion bodies are the neuropathological hallmark of FXTAS, which are largest and occur most frequently in astrocytes, glial cells that maintain brain homeostasis. Here, we characterized neuropathological alterations in astrocytes in multiple regions of the FXTAS brain. Methods Striatal and cerebellar sections from FXTAS cases (n = 12) and controls (n = 12) were stained for the astrocyte markers glial fibrillary acidic protein (GFAP) and aldehyde dehydrogenase 1L1 (ALDH1L1) using immunohistochemistry. Reactive astrogliosis severity, the prevalence of GFAP+ fragments, and astrocyte density were scored. Double label immunofluorescence was utilized to detect co‐localization of GFAP and cleaved caspase‐3. Results FXTAS cases showed widespread reactive gliosis in both grey and white matter. GFAP staining also revealed remarkably severe astrocyte pathology in FXTAS white matter – characterized by a significant and visible reduction in astrocyte density (−38.7% in striatum and − 32.2% in cerebellum) and the widespread presence of GFAP+ fragments reminiscent of apoptotic bodies. White matter specific reductions in astrocyte density were confirmed with ALDH1L1 staining. GFAP+ astrocytes and fragments in white matter were positive for cleaved caspase‐3, suggesting that apoptosis‐mediated degeneration is responsible for reduced astrocyte counts. Interpretation We have established that FXTAS neuropathology includes robust degeneration of astrocytes, which is specific to white matter. Because astrocytes are essential for maintaining homeostasis within the central nervous system, a loss of astrocytes likely further exacerbates neuropathological progression of other cell types in the FXTAS brain. ANN NEUROL 2024;95:558–575

Astrogliosis

Neuropathology

Gliosis

Degeneration (medical)

10.1002/ana.26851

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Citations (5)

Cover Image, Volume 527, Issue 10

The Journal of Comparative Neurology (2019)

Carmen Falcone Marisol Wolf‐Ochoa Sarwat Amina Tiffany Hong Gelareh Vakilzadeh

The cover image is based on the Research Article Cortical interlaminar astrocytes across the therian mammal radiation by Carmen Falcone et al., DOI: 10.1002/cne.24605.

Mammal

10.1002/cne.24692

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Evolutionary origin of Tbr2‐expressing precursor cells and the subventricular zone in the developing cortex

The Journal of Comparative Neurology (2015)

Verónica Martínez‐Cerdeño Christopher L. Cunningham Jasmin Camacho Janet A. Keiter Jeanelle Ariza

The subventricular zone (SVZ) is greatly expanded in primates with gyrencephalic cortices and is thought to be absent from vertebrates with three-layered, lissencephalic cortices, such as the turtle. Recent work in rodents has shown that Tbr2-expressing neural precursor cells in the SVZ produce excitatory neurons for each cortical layer in the neocortex. Many excitatory neurons are generated through a two-step process in which Pax6-expressing radial glial cells divide in the VZ to produce Tbr2-expressing intermediate progenitor cells, which divide in the SVZ to produce cortical neurons. We investigated the evolutionary origin of SVZ neural precursor cells in the prenatal cerebral cortex by testing for the presence and distribution of Tbr2-expressing cells in the prenatal cortex of reptilian and avian species. We found that mitotic Tbr2(+) cells are present in the prenatal cortex of lizard, turtle, chicken, and dove. Furthermore, Tbr2(+) cells are organized into a distinct SVZ in the dorsal ventricular ridge (DVR) of turtle forebrain and in the cortices of chicken and dove. Our results are consistent with the concept that Tbr2(+) neural precursor cells were present in the common ancestor of mammals and reptiles. Our data also suggest that the organizing principle guiding the assembly of Tbr2(+) cells into an anatomically distinct SVZ, both developmentally and evolutionarily, may be shared across vertebrates. Finally, our results indicate that Tbr2 expression can be used to test for the presence of a distinct SVZ and to define the boundaries of the SVZ in developing cortices.

Neocortex

Forebrain

10.1002/cne.23879

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Citations (45)

GABAARα2 is Decreased in the Axon Initial Segment of Pyramidal Cells in Specific Areas of the Prefrontal Cortex in Autism

Neuroscience (2020)

Tiffany Hong Carmen Falcone Brett D. Dufour Sarwat Amina Rosalia Perez Castro

Pyramidal cell

Interneuron

Gamma-Aminobutyric Acid

10.1016/j.neuroscience.2020.04.025

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Citations (15)

Comparative Aspects of Mammalian Cortical Development

Elsevier eBooks (2016)

Verónica Martínez‐Cerdeño Stephen C. Noctor

Cortical neurons

Brain Development

10.1016/b978-0-12-804042-3.00040-3

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Citations (0)

The Role of Neurogenic Astroglial Cells in the Developing and Adult Central Nervous System

Oxford University Press eBooks (2004)

Stephen C. Noctor Lidija Ivic Verónica Martínez‐Cerdeño Arnold R. Kriegstein

10.1093/acprof:oso/9780195152227.003.0008

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Citations (2)

Chandelier Cartridge Density Is Reduced in the Prefrontal Cortex in Autism

Cerebral Cortex (2021)

Sarwat Amina Carmen Falcone Tiffany Hong Marisol Wolf‐Ochoa Gelareh Vakilzadeh

An alteration in the balance of excitation-inhibition has been proposed as a common characteristic of the cerebral cortex in autism, which may be due to an alteration in the number and/or function of the excitatory and/or inhibitory cells that form the cortical circuitry. We previously found a decreased number of the parvalbumin (PV)+ interneuron known as Chandelier (Ch) cell in the prefrontal cortex in autism. This decrease could result from a decreased number of Ch cells, but also from decreased PV protein expression by Ch cells. To further determine if Ch cell number is altered in autism, we quantified the number of Ch cells following a different approach and different patient cohort than in our previous studies. We quantified the number of Ch cell cartridges-rather than Ch cell somata-that expressed GAT1-rather than PV. Specifically, we quantified GAT1+ cartridges in prefrontal areas BA9, BA46, and BA47 of 11 cases with autism and 11 control cases. We found that the density of GAT1+ cartridges was decreased in autism in all areas and layers. Whether this alteration is cause or effect remains unclear but could result from alterations that take place during cortical prenatal and/or postnatal development.

Interneuron

Dorsolateral prefrontal cortex

10.1093/cercor/bhaa402

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Citations (22)