Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Marjan E. Steenweg,Adeline Vanderver,Susan Blaser,Alberto Bizzi,Tom J. de Koning,Grazia M.S. Mancini,Wessel N. van Wieringen,Frederik Barkhof,Nicole I. Wolf,Marjo S. van der Knaap +9 more
TLDR
It is shown that it is possible to separate patients with hypomyelination disorders of known cause in clusters based on magnetic resonance imaging abnormalities alone, and the imaging pattern gives clues for the diagnosis.Abstract:
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in this retrospective study. A total of 112 patients with Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, Salla disease and fucosidosis were included. The brain scans were rated using a standard scoring list; the raters were blinded to the diagnoses. Grouping of the patients was based on cluster analysis. Ten clusters of patients with similar magnetic resonance imaging abnormalities were identified. The most important discriminating items were early cerebellar atrophy, homogeneity of the white matter signal on T2-weighted images, abnormal signal intensity of the basal ganglia, signal abnormalities in the pons and additional T2 lesions in the deep white matter. Eight clusters each represented mainly a single disorder (i.e. Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, infantile GM1 and GM2 gangliosidosis, Pelizaeus-Merzbacher-like disease and fucosidosis); only two clusters contained multiple diseases. Pelizaeus-Merzbacher-like disease was divided between two clusters and Salla disease did not cluster at all. This study shows that it is possible to separate patients with hypomyelination disorders of known cause in clusters based on magnetic resonance imaging abnormalities alone. In most cases of Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis and fucosidosis, the imaging pattern gives clues for the diagnosis.read more
Citations
More filters
Journal ArticleDOI
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard,Geneviève Bernard,Eliane Chouery,Maria Lisa Putorti,Martine Tétreault,Asako Takanohashi,Giovanni A. Carosso,Isabelle Clément,Odile Boespflug-Tanguy,Diana Rodriguez,Diana Rodriguez,Valérie Delague,Joelle Abou Ghoch,Nadine Jalkh,Imen Dorboz,Sébastien Fribourg,Martin Teichmann,André Mégarbané,Raphael Schiffmann,Adeline Vanderver,Bernard Brais +20 more
TL;DR: It is hypothesize that the decrease in POLR3A leads to dysregulation of the expression of certain Pol III targets and thereby perturbs cytoplasmic protein synthesis in leukoencephalopathies such as hypomyelinating leukodystrophy-3.
Journal ArticleDOI
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Ryan J. Taft,Adeline Vanderver,Richard J. Leventer,Stephen A. Damiani,Cas Simons,Sean M. Grimmond,David Miller,Johanna L. Schmidt,Paul J. Lockhart,Kate Pope,Kelin Ru,Joanna Crawford,Tena Rosser,Irenaeus F.M. de Coo,Monica Juneja,Ishwar Chander Verma,Prab Prabhakar,Susan Blaser,Julian Raiman,Petra J. W. Pouwels,Marianna R. Bevova,Truus E.M. Abbink,Marjo S. van der Knaap,Nicole I. Wolf +23 more
TL;DR: Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology.
Journal ArticleDOI
Iron dysregulation in movement disorders
TL;DR: An update on recent findings related to genetics, pathogenic mechanisms, diagnosis, and treatment of movement disorders associated with dysregulation of brain iron is provided and a new classification of NBIAs is proposed.
Journal ArticleDOI
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I. Wolf,Adeline Vanderver,Rosalina M. L. van Spaendonk,Raphael Schiffmann,Bernard Brais,Marianna Bugiani,Erik A. Sistermans,Coriene E. Catsman-Berrevoets,Johan M. Kros,Pedro Soares Pinto,Daniela Pohl,Sandya Tirupathi,Petter Strømme,Ton de Grauw,Sébastien Fribourg,Michelle Demos,Amy Pizzino,Sakkubai Naidu,Kether Guerrero,Marjo S. van der Knaap,Geneviève Bernard +20 more
TL;DR: Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis of 4H.
Journal ArticleDOI
Whole brain myelin mapping using T1- and T2-weighted MR imaging data.
TL;DR: The results suggested that the T1-w/T2-w technique may be a valid tool supporting the non-invasive mapping of myelin in the brain and might find important applications in the study of brain development, aging and disease.
References
More filters
Journal ArticleDOI
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Veronique Pingault,Nadege Bondurand,Kirsten Kuhlbrodt,Derk E. Goerich,Marie Odette Préhu,Aldamaria Puliti,Beate Herbarth,Irm Hermans-Borgmeyer,Eric Legius,Gert Matthijs,Jeanne Amiel,Stanislas Lyonnet,Isabella Ceccherini,Giovanni Romeo,Jill Clayton Smith,Andrew P Read,Michael Wegner,Michel Goossens +17 more
TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.
Journal ArticleDOI
Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.
TL;DR: The pattern of normal white-matter maturation as demonstrated with high-field-strength magnetic resonance (MR) imaging was investigated, showing that changes of brain maturation occur in an orderly manner, commencing in the brain stem and progressing to the cerebellum and the cerebrum.
Journal ArticleDOI
Invited Article: An MRI-based approach to the diagnosis of white matter disorders
TL;DR: Application of a systematic decision tree in MRI of white matter disorders facilitates the diagnosis of specific etiologic entities.
Journal Article
Concepts of Myelin and Myelination in Neuroradiology
TL;DR: Only by understanding the physiologic properties and structure of myelin can the authors use MR imaging to its fullest capacity for studying patients with myelin disorders, and this will be critical to using MR imaging techniques optimally to diagnose and study these disorders further.
Journal ArticleDOI
Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease
Birgit Uhlenberg,Markus Schuelke,Franz Rüschendorf,Nico Ruf,Angela M. Kaindl,Marco Henneke,Holger Thiele,Gisela Stoltenburg-Didinger,Fuat Aksu,Haluk Topaloglu,Peter Nürnberg,Christoph Hübner,Bernhard Weschke,Jutta Gärtner +13 more
TL;DR: It is demonstrated that GJA12 plays a key role in central myelination and is involved in peripheralMyelination in humans, and previous assumptions that PMLD is genetically heterogeneous are confirmed.
Related Papers (5)
Invited Article: An MRI-based approach to the diagnosis of white matter disorders
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard,Geneviève Bernard,Eliane Chouery,Maria Lisa Putorti,Martine Tétreault,Asako Takanohashi,Giovanni A. Carosso,Isabelle Clément,Odile Boespflug-Tanguy,Diana Rodriguez,Diana Rodriguez,Valérie Delague,Joelle Abou Ghoch,Nadine Jalkh,Imen Dorboz,Sébastien Fribourg,Martin Teichmann,André Mégarbané,Raphael Schiffmann,Adeline Vanderver,Bernard Brais +20 more
Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I. Wolf,Adeline Vanderver,Rosalina M. L. van Spaendonk,Raphael Schiffmann,Bernard Brais,Marianna Bugiani,Erik A. Sistermans,Coriene E. Catsman-Berrevoets,Johan M. Kros,Pedro Soares Pinto,Daniela Pohl,Sandya Tirupathi,Petter Strømme,Ton de Grauw,Sébastien Fribourg,Michelle Demos,Amy Pizzino,Sakkubai Naidu,Kether Guerrero,Marjo S. van der Knaap,Geneviève Bernard +20 more
Case Definition and Classification of Leukodystrophies and Leukoencephalopathies
Adeline Vanderver,Morgan Prust,Davide Tonduti,Fanny Mochel,Heather M. Hussey,Guy Helman,James Y. Garbern,Florian Eichler,Pierre Labauge,Patrick Aubourg,Diana Rodriguez,Marc C. Patterson,Johan L.K. Van Hove,Johanna L. Schmidt,Nicole I. Wolf,Odile Boespflug-Tanguy,Raphael Schiffmann,Marjo S. van der Knaap +17 more