Article
Neuroimaging
Stephanie I. W. van de Stadt, Anouk Schrantee, Irene C. Huffnagel, Wouter J. C. van Ballegoij, Matthan W. A. Caan, Petra J. W. Pouwels, Marc Engelen
Summary: X-linked adrenoleukodsytrophy (ALD) is a genetic neuro-metabolic disorder that causes progressive myelopathy. This study found that cerebral metabolite levels, specifically the tNAA/tCr ratio, measured with MRS, have potential value as biomarkers for disease severity in ALD patients. Additionally, higher levels of certain metabolites were found in ALD patients without cerebral demyelination.
NEUROIMAGE-CLINICAL
(2021)
Article
Clinical Neurology
Lisa Schaefer, Hannes Roicke, Martin Fischer, Annett Suehnel, Wolfgang Koehler
Summary: This study compares cognitive function in adult-onset X-ALD phenotypes, showing that patients with acute ACALD exhibit severe cognitive deficits, especially in processing speed; patients with AMN show intact cognitive function; and patients with arrested ACALD exhibit mild cognitive dysfunction.
ANNALS OF NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Katrin A. Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K. Dumic
Summary: X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by mutations in the ABCD1 gene, leading to abnormal metabolism of very long chain fatty acids (VLCFA) and subsequent accumulation in tissues. This can result in cerebral ALD, AMN, or Addison's disease. We report two different deletions in the ABCD1 gene, resulting in different phenotypes in two families. There is no correlation between mRNA and protein expression and VLCFA concentration in plasma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Nicolin Hainc, Mary Pat McAndrews, Taufik Valiante, Danielle M. Andrade, Richard Wennberg, Timo Krings
Summary: This study provides an updated description of the spectrum and frequency of dedicated 3T MRI findings in adult medically refractory epilepsy (MRE) patients at a tertiary epilepsy center, aiming to familiarize radiologists with potential imaging findings in this population.
INSIGHTS INTO IMAGING
(2022)
Editorial Material
Clinical Neurology
Mao Liu, Jing Zhang, Min Zhang
Summary: This case report describes a 42-year-old man presenting with a variety of symptoms including difficulties in ambulation, intermittent bowel incontinence, cognitive impairment, emotional fluctuation, and impotence.
Article
Neurosciences
Caroline G. Bergner, Nafiye Genc, Simon Hametner, Jonas Franz, Franziska van der Meer, Miso Mitkovski, Martin S. Weber, Gisela Stoltenburg-Didinger, Joern-Sven Kuehl, Wolfgang Koehler, Wolfgang Brueck, Jutta Gaertner, Christine Stadelmann
Summary: In contrast to multiple sclerosis (MS), X-linked adrenoleukodystrophy (CALD) does not exhibit selective myelin phagocytosis, but rather a decay of the entire axon-myelin unit. The study found that acute axonal damage and permanent axonal loss in CALD are underestimated features that need to be focused on in the search for biomarkers and novel therapeutic approaches. Regenerating oligodendrocytes in CALD are affected by the ongoing disease process, indicating that repair pathways are activated in the disease.
Article
Clinical Neurology
Wei Jiang, Wei Jin, Hulin Zhao, Dehui Huang, Lei Wu
Summary: In this study, we analyzed 16 cases of adult X-linked adrenoleukodystrophy (ALD) and found that frontal lobe involvement at the initial stage is a common clinical manifestation and is prone to misdiagnosis and underdiagnosis. The early clinical manifestation is a decline in cognitive and executive function. Brain trauma may be one of the triggers for this disease. MRI can reveal butterfly wing-like lesions in the frontal lobe. Confirmation of the diagnosis requires measurement of VLCFA levels and genetic testing.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Alexis Ollitrault, Frederique Charbonneau, Marie-Laure Herdan, Olivier Berges, Kevin Zuber, Lama Giovansili, Pauline Launay, Julien Savatovsky, Augustin Lecler
Summary: This study concluded that compared to a conventional MRI protocol, a single Dixon-T2WI sequence showed higher sensitivity and specificity, fewer artifacts, and increased confidence when assessing thyroid eye disease.
EUROPEAN RADIOLOGY
(2021)
Review
Endocrinology & Metabolism
Marco Cappa, Tommaso Todisco, Carla Bizzarri
Summary: X-linked adrenoleukodystrophy is a progressive neurodegenerative disorder caused by a defect in the ABCD1 gene. The disease can have varying clinical presentations, but primary adrenal insufficiency is one of the main features. The underlying mechanisms of the association between PAI and X-ALD are still unclear, but early diagnosis and treatment are crucial for patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yunfei Zhang, Ruofan Sheng, Chun Yang, Yongming Dai, Mengsu Zeng
Summary: Compared to 3.0 T rFOV-DWI, 5.0 T rFOV-DWI showed higher signal-to-noise ratio and better image quality at the same anatomical locations. This holds clinical potential for identifying abdominal abnormalities in routine practice.
INSIGHTS INTO IMAGING
(2023)
Review
Clinical Neurology
Stephanie I. W. van de Stadt, Irene C. Huffnagel, Bela R. Turk, Marjo S. van der Knaap, Marc Engelen
Summary: This review explores the use of MRI in the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD) and discusses structural and quantitative imaging techniques used in ALD. The focus is on early diagnosis and imaging markers, as well as potential applications in future clinical practice and research opportunities.
Article
Behavioral Sciences
Lisa Schaefer, Hannes Roicke, Christa-Caroline Bergner, Wolfgang Koehler
Summary: The study compared symptomatic and asymptomatic women with X-ALD in terms of their physical and mental well-being and quality of life. Symptomatic women reported poorer physical and mental health, with a high prevalence of depression, chronic pain, sleep disturbances, sexual dysfunction, and restless legs syndrome. The findings highlight the importance of developing multidisciplinary treatment options tailored to the specific needs of women.
BRAIN AND BEHAVIOR
(2023)
Article
Neurosciences
Maya Bhat, Archana Natarajan, S. R. Chandra, Rita Christropher, M. Netravathi
Summary: This study provides a comprehensive analysis of clinical, biochemical, and imaging features in a large series of X-ALD patients. Understanding the clinical characteristics and typical/atypical imaging patterns is crucial for early diagnosis and treatment.
Article
Clinical Neurology
Chenhui Mao, Jie Li, Xinying Huang, Jie Wang, Shanshan Chu, Yao Zhang, Liling Dong, Caiyan Liu, Lin Lu, Ling Qiu, Wei Chen, Bin Peng, Liying Cui, Jing Gao
Summary: This study describes the typical and atypical clinical and neuroimaging features of ALD in Chinese patients, which can contribute to early diagnosis and intervention for improved prognosis.
NEUROLOGICAL SCIENCES
(2022)
Article
Neurosciences
Maximilian N. Voelker, Oliver Kraff, Steffen Goerke, Frederik B. Laun, Jannis Hanspach, Kerrin J. Pine, Philipp Ehses, Moritz Zaiss, Andrzej Liebert, Sina Straub, Korbinian Eckstein, Simon Robinson, Armin N. Nagel, Maria R. Stefanescu, Astrid Wollrab, Sabrina Klix, Joerg Felder, Michael Hock, Dario Bosch, Nikolaus Weiskopf, Oliver Speck, Mark E. Ladd, Harald H. Quick
Summary: This study evaluated the reproducibility of quantitative brain imaging at ten different 7 T sites and found high reproducibility with MP2RAGE measurements. QSM showed high inter-site reproducibility for relevant subcortical volumes. Although CEST imaging revealed systematic differences between sites, its reproducibility was comparable to literature results.
Article
Clinical Neurology
Nazem Atassi, Eva-Maria Ratai, David J. Greenblatt, Darlene Pulley, Yanli Zhao, Jeffery Bombardier, Stuart Wallace, Joanna Eckenrode, Merit Cudkowicz, Allitia Dibernardo
AMYOTROPHIC LATERAL SCLEROSIS
(2010)
Article
Neurosciences
Eva-Maria Ratai, Sarah J. Pilkenton, Jane B. Greco, Margaret R. Lentz, Jeffrey P. Bombardier, Katherine W. Turk, Julian He, Chan-Gyu Joo, Vallent Lee, Susan Westmoreland, Elkan Halpern, Andrew A. Lackner, R. Gilberto Gonzalez
Article
Oncology
Heisoog Kim, Ciprian Catana, Eva-Maria Ratai, Ovidiu C. Andronesi, Dominique L. Jennings, Tracy T. Batchelor, Rakesh K. Jain, A. Gregory Sorensen
Article
Biochemical Research Methods
Ovidiu C. Andronesi, Saadallah Ramadan, Eva-Maria Ratai, Dominique Jennings, Carolyn E. Mountford, A. Gregory Sorensen
JOURNAL OF MAGNETIC RESONANCE
(2010)
Article
Biochemical Research Methods
Saadallah Ramadan, Eva-Maria Ratai, Lawrence L. Wald, Carolyn E. Mountford
JOURNAL OF MAGNETIC RESONANCE
(2010)
Article
Radiology, Nuclear Medicine & Medical Imaging
Margaret R. Lentz, Susan V. Westmoreland, Vallent Lee, Eva-Maria Ratai, Elkan F. Halpern, R. Gilberto Gonzalez
MAGNETIC RESONANCE IN MEDICINE
(2008)
Article
Radiology, Nuclear Medicine & Medical Imaging
Eva-Maria Ratai, Lakshmanan Annamalai, Tricia Burdo, Chan-Gyu Joo, Jeffrey P. Bombardier, Robert Fell, Reza Hakimelahi, Julian He, Margaret R. Lentz, Jennifer Campbell, Elizabeth Curran, Elkan F. Halpern, Eliezer Masliah, Susan V. Westmoreland, Kenneth C. Williams, R. Gilberto Gonzalez
MAGNETIC RESONANCE IN MEDICINE
(2011)
Article
Biophysics
Margaret R. Lentz, Vallent Lee, Susan V. Westmoreland, Eva-Maria Ratai, Elkan F. Halpern, R. Gilberto Gonzalez
NMR IN BIOMEDICINE
(2008)
Article
Multidisciplinary Sciences
Eva-Maria Ratai, Jeffrey P. Bombardier, Chan-Gyu Joo, Lakshmanan Annamalai, Tricia H. Burdo, Jennifer Campbell, Robert Fell, Reza Hakimelahi, Julian He, Patrick Autissier, Margaret R. Lentz, Elkan F. Halpern, Eliezer Masliah, Kenneth C. Williams, Susan V. Westmoreland, R. Gilberto Gonzalez
Article
Multidisciplinary Sciences
Jennifer H. Campbell, Tricia H. Burdo, Patrick Autissier, Jeffrey P. Bombardier, Susan V. Westmoreland, Caroline Soulas, R. Gilberto Gonzalez, Eva-Maria Ratai, Kenneth C. Williams
Article
Radiology, Nuclear Medicine & Medical Imaging
Gulin OZ, Jeffry R. Alger, Peter B. Barker, Robert Bartha, Alberto Bizzi, Chris Boesch, Patrick J. Bolan, Kevin M. Brindle, Cristina Cudalbu, Alp Dincer, Ulrike Dydak, Uzay E. Emir, Jens Frahm, Ramon Gilberto Gonzalez, Stephan Gruber, Rolf Gruetter, Rakesh K. Gupta, Arend Heerschap, Anke Henning, Hoby P. Hetherington, Franklyn A. Howe, Petra S. Hueppi, Ralph E. Hurd, Kejal Kantarci, Dennis W. J. Klomp, Roland Kreis, Marijn J. Kruiskamp, Martin O. Leach, Alexander P. Lin, Peter R. Luijten, Malgorzata Marjanska, Andrew A. Maudsley, Dieter J. Meyerhoff, Carolyn E. Mountford, Sarah J. Nelson, M. Necmettin Pamir, Jullie W. Pan, Andrew C. Peet, Harish Poptani, Stefan Posse, Petra J. W. Pouwels, Eva-Maria Ratai, Brian D. Ross, Tom W. J. Scheenen, Christian Schuster, Ian C. P. Smith, Brian J. Soher, Ivan Tkac, Daniel B. Vigneron, Risto A. Kauppinen
Article
Cell Biology
Chin-Lee Wu, Kate W. Jordan, Eva M. Ratai, Jinhua Sheng, Christen B. Adkins, Elita M. DeFeo, Bruce G. Jenkins, Leslie Ying, W. Scott McDougal, Leo L. Cheng
SCIENCE TRANSLATIONAL MEDICINE
(2010)
Article
Clinical Neurology
Aneesh B. Singhal, Eva Ratai, Thomas Benner, Mark Vangel, Vallent Lee, Walter J. Koroshetz, Pamela W. Schaefer, A. Gregory Sorensen, R. Gilberto Gonzalez
Article
Medicine, Research & Experimental
K Williams, S Westmoreland, J Greco, E Ratai, M Lentz, WK Kim, RA Fuller, JP Kim, P Autissier, PK Sehgal, RF Schinazi, N Bischofberger, M Piatak, JD Lifson, E Masliah, RG González
JOURNAL OF CLINICAL INVESTIGATION
(2005)