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107 results on '"Vanderver, A."'

1. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome

Author

Gavazzi, Francesco, primary, Vaia, Ylenia, additional, Woidill, Sarah, additional, Formanowski, Brielle, additional, Peixoto de Barcelos, Isabella, additional, Sevagamoorthy, Anjana, additional, Modesti, Nicholson B., additional, Charlton, Lauren, additional, Cusack, Stacy V., additional, Vincent, Ariel, additional, D'Aiello, Russell, additional, Jawad, Abbas, additional, Galli, Jessica, additional, Varesio, Costanza, additional, Fazzi, Elisa, additional, Orcesi, Simona, additional, Glanzman, Allan M., additional, Lorch, Scott, additional, DeMauro, Sara B., additional, Guez-Barber, Danielle, additional, Waldman, Amy T., additional, Vanderver, Adeline, additional, and Adang, Laura A., additional

Published
2024
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2. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)

Author

Jan, Amanda, primary, de Barcelos, Isabella Peixoto, additional, Modesti, Nicholson, additional, Woidill, Sarah, additional, Gavazzi, Francesco, additional, Isaacs, David, additional, D’Aiello, Russell, additional, Sevagamoorthy, Anjana, additional, Pizzino, Amy, additional, Schmidt, Johanna, additional, Van Haren, Keith, additional, Keller, Stephanie, additional, Eichler, Florian, additional, Emrick, Lisa, additional, Fraser, Jamie, additional, Shults, Justine, additional, Vanderver, Adeline, additional, and Adang, Laura, additional

Published
2024
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3. TUBB4A de novo mutations cause isolated hypomyelination

Author

Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J, van der Knaap, Marjo S, Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, and Vanderver, Adeline

Subjects
Pediatric, Congenital Structural Anomalies, Neurosciences, Brain Disorders, Genetics, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Atrophy, Basal Ganglia, Cerebellum, Child, Child, Preschool, Exome, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Phenotype, Registries, Tubulin, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.MethodsPatients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.ResultsFive patients who presented with hypomyelination without the classic basal ganglia abnormalities were found to have novel TUBB4A mutations through whole-exome sequencing. Clinical and imaging characteristics were reviewed suggesting a spectrum of clinical manifestations.ConclusionHypomyelinating leukodystrophies remain a diagnostic challenge with a large percentage of unresolved cases. This finding expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. TUBB4A mutation screening should be considered in cases of isolated hypomyelination or hypomyelination with nonspecific cerebellar atrophy.

Published
2014

4. GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Author

Prust, M, Wang, J, Morizono, H, Messing, A, Brenner, M, Gordon, E, Hartka, T, Sokohl, A, Schiffmann, R, Gordish-Dressman, H, Albin, R, Amartino, H, Brockman, K, Dinopoulos, A, Dotti, MT, Fain, D, Fernandez, R, Ferreira, J, Fleming, J, Gill, D, Griebel, M, Heilstedt, H, Kaplan, P, Lewis, D, Nakagawa, M, Pedersen, R, Reddy, A, Sawaishi, Y, Schneider, M, Sherr, E, Takiyama, Y, Wakabayashi, K, Gorospe, JR, and Vanderver, A

Subjects
Neurosciences, Clinical Research, Brain Disorders, Neurodegenerative, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Age Factors, Age of Onset, Alexander Disease, Bayes Theorem, DNA Mutational Analysis, Exons, Female, Glial Fibrillary Acidic Protein, Humans, Logistic Models, Male, Mutation, Retrospective Studies, Survival Analysis, Young Adult, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations.MethodsWe present 30 new cases of AxD and reviewed 185 previously reported cases. We conducted Wilcoxon rank sum tests to identify variables scaling with AAO, survival analysis to identify predictors of mortality, and χ(2) tests to assess the effects of common GFAP mutations. Finally, we performed latent class analysis (LCA) to statistically define AxD subtypes.ResultsLCA identified 2 classes of AxD. Type I is characterized by early onset, seizures, macrocephaly, motor delay, encephalopathy, failure to thrive, paroxysmal deterioration, and typical MRI features. Type II is characterized by later onset, autonomic dysfunction, ocular movement abnormalities, bulbar symptoms, and atypical MRI features. Survival analysis predicted a nearly 2-fold increase in mortality among patients with type I AxD relative to those with type II. R79 and R239 GFAP mutations were most common (16.6% and 20.3% of all cases, respectively). These common mutations predicted distinct clinical outcomes, with R239 predicting the most aggressive course.ConclusionsAAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression. We propose revised AxD subtypes, type I and type II, based on analysis of statistically defined patient groups.

Published
2011

6. Investigations on Myelin Oligodendrocyte Glycoprotein Autoimmunity in Children (4368)

Author

Armangue, Thais, primary, Olive-Cirera, Gemma, additional, Martinez-Hernandez, Eugenia, additional, Sepulveda, Maria, additional, Ruiz-Garcia, Raquel, additional, Arrambide, Georgina, additional, Auger, Cristina, additional, Tintore, Mar, additional, Montalban, Xavier, additional, Vanderver, Adeline, additional, Graus, Francesc, additional, Saiz, Albert, additional, and Dalmau, Josep, additional

Published
2020
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9. Developmental outcomes of Aicardi Goutières Syndrome (P4.6-044)

Author

Adang, Laura, primary, Gavazzi, Francesco, additional, De Giorgis, Valentina, additional, De Simone, Micaela, additional, Fazzi, Elisa, additional, Galli, Jessica, additional, Koh, Jamie, additional, Kramer-Golkinkoff, Julia, additional, Orcesi, Simona, additional, Peer, Kyle, additional, Ulrick, Nicole, additional, Woidill, Sarah, additional, Shults, Justine, additional, and Vanderver, Adeline, additional

Published
2019
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12. Consensus Guidelines: MRI Surveillance of Children with Presymptomatic Adrenoleukodystrophy (P4.6-047)

Author

Turk, Bela, primary, Mallack, Eric, additional, Adang, Laura, additional, Becker, Catherine, additional, Eichler, Florian, additional, Van Haren, Keith, additional, Hollandsworth, Kim, additional, Kurtzberg, Joanne, additional, Kwon, Jennifer, additional, Lund, Troy, additional, Maegawa, Gustavo, additional, Moser, Ann, additional, Orchard, Paul, additional, Orsini, Joseph, additional, Rauner, Bob, additional, Raymond, Gerald, additional, Regelman, Molly, additional, Ruzhnikov, Maura, additional, Salzman, Amber, additional, Vanderver, Adeline, additional, Seeger, Elisa, additional, and Fatemi, Seyed, additional

Published
2019
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16. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Author

Marjo S. van der Knaap, Truus E.M. Abbink, Ilya Kister, Adeline Vanderver, Amy Pizzino, Ryan J. Taft, Nicole I. Wolf, Camilo Toro, Kartikasalwah Abd Latif, Cas Simons, Richard J. Leventer, Other departments, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Pediatric surgery, and NCA - Brain mechanisms in health and disease

Subjects
Male, Pathology, medicine.medical_specialty, Databases, Factual, Aspartate-tRNA Ligase, Biology, Leukoencephalopathy, Young Adult, SDG 3 - Good Health and Well-being, Leukoencephalopathies, medicine, Spastic, Humans, Spasticity, Lactic Acid, Age of Onset, Cerebral Cortex, Multiple sclerosis, Infant, medicine.disease, Spinal cord, Magnetic Resonance Imaging, medicine.anatomical_structure, Spinal Cord, Muscle Spasticity, Mutation, Encephalitis, Female, Steroids, Neurology (clinical), Brainstem, medicine.symptom, Age of onset, Paraplegia
Abstract

Objective: To describe the expanding clinical spectrum of a recently described hereditary leukoencephalopathy, hypomyelination with brainstem and spinal cord involvement and leg spasticity, which is caused by mutations in the aspartyl tRNA-synthetase encoding gene DARS , including patients with an adolescent onset. Methods: Three patients with mutations in DARS were identified by combining MRI pattern recognition and genetic analysis. Results: One patient had the typical infantile presentation, but 2 patients with onset in late adolescence had a disease mimicking an acquired inflammatory CNS disorder. Adolescent-onset patients presented with subacute spastic paraplegia and had positive response to steroids. They had only minor focal supratentorial white matter abnormalities, but identical spinal cord changes involving dorsal columns and corticospinal tracts. Clinical presentation included subacute spastic paraplegia with partial improvement on steroids. Conclusions: Focal T2 hyperintense white matter changes on brain MRI in combination with spinal cord signal abnormalities usually suggest acquired inflammatory conditions such as multiple sclerosis, especially in the context of relapsing course and a positive response to steroid treatment. Adolescents with mutations in DARS can present with a comparable clinical picture, broadening the clinical spectrum of hypomyelination with brainstem and spinal cord involvement and leg spasticity.

Published
2015
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17. LeukoSeq Whole Genome Sequencing Clinical Trial: An Interim Analysis (P3.322)

Author

Helman, Guy, primary, Sherbini, Omar, additional, Cross, Zachary, additional, Woidill, Sarah, additional, Takanohashi, Asako, additional, Dubbs, Holly, additional, Flores, Joseph, additional, Bennett, Maren, additional, McEachern, Julia, additional, Perry, Denise, additional, Ulrick, Nicole, additional, Schmidt, Johanna, additional, Pizzino, Amy, additional, Bernard, Genevieve, additional, Taft, Ryan, additional, and Vanderver, Adeline, additional

Published
2018
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18. Pilot study of the use of Janus Kinase Inhibitor, Baricitinib, in the treatment of heritable interferonopathy Aicardi Goutières Syndrome (P3.323)

Author

Vanderver, Adeline, primary, Nicole, Ulrick, additional, Gavazzi, Francesco, additional, Takanohashi, Asako, additional, Armangue, Thais, additional, Rhee, Jullie, additional, Koh, Jamie, additional, Woidill, Sarah, additional, Shults, Justine, additional, Foerster, Deborah, additional, Goldbach-Mansky, Raphaela, additional, Adang, Laura, additional, and Waldman, Amy, additional

Published
2018
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19. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Author

Nicole I. Wolf, Richard J. Rodenburg, Patrick Ferreira, Peter Heutink, Truus E.M. Abbink, Leo G.J. Nijtmans, Dietz Rating, Adeline Vanderver, Roelineke J. Lunsing, Hugo A. Arroyo, Sietske H. Kevelam, Anne Mitchell, Marjo S. van der Knaap, Carola G.M. van Berkel, Other departments, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Faculteit Medische Wetenschappen/UMCG, Functional Genomics, and Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

Subjects
INVOLVEMENT, Pathology, medicine.medical_specialty, DISORDERS, DNA Mutational Analysis, LEUKOENCEPHALOPATHY, Biology, Corpus callosum, medicine.disease_cause, DIAGNOSIS, BRAIN-STEM, Article, DISEASE, White matter, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Mutant protein, Leukoencephalopathies, medicine, Humans, Gene, Exome sequencing, Genetics, Mutation, Electron Transport Complex I, medicine.diagnostic_test, MEMBRANE-PROTEIN, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Magnetic resonance imaging, Magnetic Resonance Imaging, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Cerebellar cortex, Neurology (clinical), WHITE-MATTER
Abstract

Item does not contain fulltext OBJECTIVE: To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern. METHODS: We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-exome sequencing to identify the mutated gene. We examined patients' fibroblasts for biochemical consequences of the mutant protein. RESULTS: We identified 6 patients from 5 unrelated families with a similar MRI pattern showing predominant abnormalities of the cerebellar cortex, deep cerebral white matter, and corpus callosum. The 4 tested patients had a respiratory chain complex capital I, Ukrainian deficiency. Exome sequencing revealed mutations in NUBPL, encoding an iron-sulfur cluster assembly factor for complex capital I, Ukrainian, in all patients. Upon identification of the mutated gene, we analyzed the MRI of a previously published case with NUBPL mutations and found exactly the same pattern. A strongly decreased amount of NUBPL protein and fully assembled complex I was found in patients' fibroblasts. Analysis of the effect of mutated NUBPL on the assembly of the peripheral arm of complex I indicated that NUBPL is involved in assembly of iron-sulfur clusters early in the complex I assembly pathway. CONCLUSION: Our data show that NUBPL mutations are associated with a unique, consistent, and recognizable MRI pattern, which facilitates fast diagnosis and obviates the need for other tests, including assessment of mitochondrial complex activities in muscle or fibroblasts.

Published
2013
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20. Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

Author

Raphael Schiffmann, Fanny Mochel, Jerry N. Thompson, Frans W. Verheijen, Udo F. H. Engelke, Ron A. Wevers, François Seguin, Nathan McNeill, Adeline Vanderver, Julie Barritault, Michèl A.A.P. Willemsen, Nicole I. Wolf, B. Yang, Pediatric surgery, NCA - Childhood White Matter Diseases, and Clinical Genetics

Subjects
Sialuria, Male, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Genotype, Infantile free sialic acid storage disease, Organic Anion Transporters, Gene mutation, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Young Adult, medicine, Humans, Genetic Testing, Child, Symporters, Leukodystrophy, Sialic Acid Storage Disease, Infant, Articles, Dipeptides, medicine.disease, Magnetic Resonance Imaging, N-Acetylneuraminic Acid, Sialic acid, Salla disease, Cross-Sectional Studies, chemistry, Child, Preschool, Mutation, Female, Neurology (clinical), N-Acetylneuraminic acid, Functional Neurogenomics [DCN 2], Demyelinating Diseases
Abstract

Mutations in the SLC17A5 gene encoding the lysosomal transporter sialin are associated with the free sialic acid storage diseases (SASD): Salla disease (or the Finnish type of sialuria), the more severe infantile free sialic acid storage disease (ISSD), and intermediate phenotypes with clinical findings of both Salla disease and ISSD.1 SASD are characterized by the abnormal retention of free sialic acid in the lysosome (Online Mendelian Inheritance in Man 604369 and 269920). Patients with SASD usually present with nystagmus, progressive cerebellar ataxia, spasticity, and severe psychomotor delay. These symptoms are associated with diffuse supratentorial hypomyelination, thin corpus callosum, and cortical and cerebellar atrophy. The increase of free sialic acid in urine has been considered the biochemical hallmark of the disease.1 However, we have recently reported that patients with SASD can present without sialuria.2 The mechanisms leading to hypomyelination in SASD remain largely unknown. Here, we report the increase of N- acetylaspartylglutamate (NAAG) in the CSF of patients with SASD, which may provide new insight into the pathophysiology of the disease.

Published
2010
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21. Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

Author

Odile Boespflug-Tanguy, Raphael Schiffmann, Laetitia Horzinski, Margaret Timmons, Yetrib Hathout, Adeline Vanderver, Michelle Mintz, Eric P. Hoffman, Anne Fogli, F. Niel, Erynn Gordon, and Jelena Maletkovic

Subjects
Adult, medicine.medical_specialty, Neurology, Asialoglycoproteins, Gene mutation, medicine.disease_cause, Sensitivity and Specificity, Article, Cerebrospinal fluid, medicine, Humans, Child, chemistry.chemical_classification, Mutation, business.industry, Dementia, Vascular, Leukodystrophy, Transferrin, Infant, medicine.disease, Leukodystrophy, Globoid Cell, Eukaryotic Initiation Factor-2B, chemistry, Child, Preschool, Immunology, Mutation testing, Biomarker (medicine), Neurology (clinical), business, Biomarkers
Abstract

This is a study estimating diagnostic accuracy of CSF asialotransferrin to transferrin ratio measurement in eIF2B related disorders by using clinical evaluation and EIF2B mutation analysis as the reference standard. eIF2B-related disorder is a relatively common leukodystrophy with broad phenotypic variation that is caused by mutations in any of the five EIF2B genes. There is a need for a simple and clinically valid screening tool for physicians evaluating patients with an unclassified leukodystrophy.CSF two-dimensional gel (2DG) electrophoresis analyses to measure asialotransferrin to transferrin ratios were performed in 60 subjects including 6 patients with documented EIF2B gene mutations, patients with other types of leukodystrophy, and patients with no leukodystrophy.All six patients with mutation proven eIF2B-related disease showed low to nearly undetectable amounts of asialotransferrin in their CSF when compared to 54 unaffected controls by CSF 2DG analyses in this study. eIF2B-like patients, with clinically similar presentations but no mutations in EIF2B1-5, were distinguished from patients with mutations in EIF2B1-5 by this biomarker. Patients with mutations in EIF2B1-5 had asialotransferrin/transferrin ratio levels significantly different from the group as a whole (p0.001). Using 8% asialotransferrin/transferrin ratio as a cutoff, this biomarker has a 100% sensitivity (95% CI = 52-100%) and 94% specificity (95% CI = 84-99%).Decreased asialotransferrin/transferrin ratio in the CSF of patients with eIF2B-related disorder is highly sensitive and specific. This rapid (48 hours) and inexpensive diagnostic tool for eIF2B-related disorders has the potential to identify patients with likely eIF2B-related disorder for mutation analysis.

Published
2008
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22. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Author

Umberto Balottin, Simona Orcesi, Roberta La Piana, Guy Helman, Ivana Olivieri, Elisa Fazzi, Carla Uggetti, John H. Livingston, Davide Tonduti, Federico Roncarolo, Adeline Vanderver, and Yanick J. Crow

Subjects
0301 basic medicine, Male, Pathology, medicine.medical_specialty, Adolescent, Autoimmune Diseases of the Nervous System, Child, Child, Preschool, Exodeoxyribonucleases, Female, Humans, Infant, Infant, Newborn, Nervous System Malformations, Phosphoproteins, White Matter, Young Adult, Magnetic Resonance Imaging, Tomography, X-Ray Computed, Neurology (clinical), Article, Leukoencephalopathy, White matter, 03 medical and health sciences, 0302 clinical medicine, Genotype, medicine, Young adult, Preschool, Tomography, Cerebral atrophy, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Newborn, X-Ray Computed, 030104 developmental biology, medicine.anatomical_structure, Aicardi–Goutières syndrome, business, 030217 neurology & neurosurgery, Calcification
Abstract

Objective: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutieres syndrome (AGS). Methods: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype. Results: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. Conclusions: We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms.

Published
2015

24. Allergies in Pediatric Multiple Sclerosis: A Case-Control Study (P1.380)

Author

Neiderer, Theresa, primary, Waltz, Michael, additional, Casper, Charlie, additional, Kavak, Katelyn, additional, Aaen, Gregory, additional, Belman, Anita, additional, Benson, Leslie, additional, Candee, Meghan, additional, Chitnis, Tanuja, additional, Graves, Jennifer, additional, Greenberg, Benjamin, additional, Gorman, Mark, additional, Harris, Yolanda, additional, Hart, Janace, additional, Kahn, Ilana, additional, Krupp, Lauren, additional, Lotze, Timothy, additional, Mar, Soe, additional, Ness, Jayne, additional, Olsen, Cody, additional, Roalstad, Shelly, additional, Rodriguez, Moses, additional, Rose, John, additional, Rubin, Jennifer, additional, Schreiner, Teri, additional, Simmons, Timothy, additional, Tillema, Jan-Mendelt, additional, Vanderver, Adeline, additional, Waldman, Amy, additional, Waubant, Emmanuelle, additional, and Weinstock-Guttman, Bianca, additional

Published
2016
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25. First Genome-Wide Analysis in Pediatric Multiple Sclerosis (MS) Confirms a Role for Adult MS Risk Variants and Reveals New Candidates (S29.001)

Author

Barcellos, Lisa, primary, Shao, Xiaorong, additional, Rhead, Brooke, additional, Gianfrancesco, Milena, additional, Graves, Jennifer, additional, Waldman, Amy, additional, Lotze, Timothy, additional, Schreiner, Teri, additional, Belman, Anita, additional, Greenberg, Benjamin, additional, Weinstock-Guttman, Bianca, additional, Aaen, Gregory, additional, Tillema, Jan-Mendelt, additional, Hart, Janace, additional, Ness, Jayne, additional, Harris, Yolanda, additional, Rubin, Jennifer, additional, Candee, Meghan, additional, Krupp, Lauren, additional, Gorman, Mark, additional, Benson, Leslie, additional, Rodriguez, Moses, additional, Chitnis, Tanuja, additional, Mar, Soe, additional, Vanderver, Adeline, additional, Kahn, Ilana, additional, Rose, John, additional, Roalstad, Shelly, additional, Casper, Charlie, additional, Shen, Ling, additional, Quach, Hong, additional, Metayer, Catherine, additional, Schaefer, Cathy, additional, and Waubant, Emmanuelle, additional

Published
2016
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26. Intrathecal Interferon Signaling Genes Expression in Leukodystrophies with Calcifying Microangiopathy on Neuropathology (P5.149)

Author

Helman, Guy, primary, Brooks, Stephen, additional, Gordish-Dressman, Heather, additional, Takanohashi, Asako, additional, Harmon, Brennan, additional, Crow, Yanick, additional, Rice, Gillian, additional, Lebon, Pierre, additional, Van Der Knaap, Marjo, additional, Herron, Brian, additional, Brooks, Philip, additional, Goldbach-Mansky, Raphaela, additional, and Vanderver, Adeline, additional

Published
2016
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27. Diffuse hypomyelination is not obligate for POLR3-related disorders

Author

La Piana, Roberta, primary, Cayami, Ferdy K., additional, Tran, Luan T., additional, Guerrero, Kether, additional, van Spaendonk, Rosalina, additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Haack, Tobias, additional, Wassmer, Evangeline, additional, Timmann, Dagmar, additional, Mierzewska, Hanna, additional, Poll-Thé, Bwee T., additional, Patel, Chirag, additional, Cox, Helen, additional, Atik, Tahir, additional, Onay, Huseyin, additional, Ozkınay, Ferda, additional, Vanderver, Adeline, additional, van der Knaap, Marjo S., additional, Wolf, Nicole I., additional, and Bernard, Geneviève, additional

Published
2016
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31. founder mutation in the Roma population causes recessive variant of H-ABC.

Author

Hamilton, Eline M. C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E. M., van der Knaap, Marjo S., and Recessive H-ABC Research Group

Published
2017
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33. Novel (ovario) leukodystrophy related to AARS2 mutations

Author

Dallabona, C., primary, Diodato, D., additional, Kevelam, S. H., additional, Haack, T. B., additional, Wong, L.-J., additional, Salomons, G. S., additional, Baruffini, E., additional, Melchionda, L., additional, Mariotti, C., additional, Strom, T. M., additional, Meitinger, T., additional, Prokisch, H., additional, Chapman, K., additional, Colley, A., additional, Rocha, H., additional,  unap, K., additional, Schiffmann, R., additional, Salsano, E., additional, Savoiardo, M., additional, Hamilton, E. M., additional, Abbink, T. E. M., additional, Wolf, N. I., additional, Ferrero, I., additional, Lamperti, C., additional, Zeviani, M., additional, Vanderver, A., additional, Ghezzi, D., additional, and van der Knaap, M. S., additional

Published
2014
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34. If at first you don't succeed, test again (for peroxisomal biogenesis disorders)

Author

Adeline Vanderver

Subjects
Male, Pediatrics, medicine.medical_specialty, business.industry, Brain, Disease, Magnetic Resonance Imaging, Test (assessment), Peroxisomal Disorders, White matter, medicine.anatomical_structure, Humans, Medicine, Neurology (clinical), Peroxisomal biogenesis, business
Abstract

The correct diagnosis of patients with leukodystrophies continues to be a challenge. Historical cohorts demonstrate that nearly half of cases of presumed genetic white matter disease of the brain remain unsolved.1 These patients with unclassified leukodystrophies and their families face the medical, economic, and emotional challenges associated with lack of a specific diagnosis. Patients often undergo years of costly and often invasive testing without a definitive answer. MRI pattern recognition2,3 is an approach by which individual abnormal features on MRI can be used to narrow the …

Published
2012
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37. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Author

Kevelam, S. H., primary, Rodenburg, R. J., additional, Wolf, N. I., additional, Ferreira, P., additional, Lunsing, R. J., additional, Nijtmans, L. G., additional, Mitchell, A., additional, Arroyo, H. A., additional, Rating, D., additional, Vanderver, A., additional, van Berkel, C. G. M., additional, Abbink, T. E. M., additional, Heutink, P., additional, and van der Knaap, M. S., additional

Published
2013
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49. Neopterin and Tetrahydrobiopterin Cerebrospinal Fluid Elevations in Aicardi Goutieres Syndrome: Confirmation of Findings in Mutation Confirmed Subjects (P05.134)

Author

Elisa Fazzi, Ivana Olivieri, Adeline Vanderver, Simona Orcesi, R. La Piana, J. Lowenstein, and Davide Tonduti

Subjects
Pathology, medicine.medical_specialty, Mutation, business.industry, Alpha interferon, Neopterin, Biopterin, Tetrahydrobiopterin, medicine.disease_cause, medicine.disease, Gastroenterology, chemistry.chemical_compound, Cerebrospinal fluid, chemistry, Concomitant, Internal medicine, Medicine, Aicardi–Goutières syndrome, Neurology (clinical), business, medicine.drug
Abstract

Objective: We sought to validate previous findings of cerebrospinal fluid (CSF) Neopterin and Tetrahydrobiopterin abnormalities in mutation confirmed subjects with Aicardi Goutieres Syndrome. Background Previous reports of elevated Neopterin and Tetrahydrobiopterin in AGS predate molecular diagnosis in this disorder. Thus, their value as biomarkers remains difficult to ascertain. In addition, abnormal levels of 5-methyltetrahydrofolate have been reported in a few patients but the prevalence of this finding is unknown. Design/Methods: Twenty patients with mutation confirmed AGS, evaluated either at the International Aicardi Goutieres Syndrome Association or in the Myelin Disorders Bioregistry Project were studied retrospectively according to IRB approved protocols. CSF analysis was performed according to standard diagnostic approaches in AGS. Levels of alpha interferon (IFNa), Neopterin, Biopterin or Tetrahydrobiopterin and 5-methyltetrahydrofolate (5MTHF) were recorded. Results: Neopterin elevations (from 1.5 to 60.4 times the upper limit of normal for the analyzing laboratory) were identified in 16/20 subjects (709 + 587 nmol/l). Concomitant biopterin (102 + 62 nmol/l in 8/9 patients, from 1.5 to 6.9 the upper limit of normal) or tetrahydrobiopterin (120 + 47 nmol/l in 4/5 patients, from 1.1 to 3.1 the upper limit of normal) elevations were identified in 12/16 subjects, with no measurement in two subjects. In 11/16 subjects with elevated neopterin, IFNa was measured and found to be elevated in all but one. 5MTHF was measured in 14/20 subjects, and values were elevated in two (79.4 nmol/l and 144 nmol/l), low in five (34 + 17 nmol/l) and normal in the other seven. In all but one subject, low 5MTHF levels were associated with elevations in Neopterin and Biopterin or Tetrahydrobiopterin. Conclusions: Elevations of Neopterin and Biopterin or Tetrahydrobiopterin are present in a majority of subjects with mutation proven AGS. Levels of 5MTHF are variable and not as helpful as a diagnostic tool. Disclosure: Dr. Tonduti has nothing to disclose. Dr. Vanderver has nothing to disclose. Dr. Olivieri has nothing to disclose. Dr. Loewenstein has nothing to disclose. Dr. Fazzi has nothing to disclose. Dr. La Piana has nothing to disclose. Dr. Orcesi has nothing to disclose.

Published
2012
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