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leukodystrophy mri

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https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#1
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28904573/lissencephaly-pachygyria-masquerading-as-leukodystrophy-on-magnetic-resonance-imaging-brain
#2
Anil Vasudev Israni, Anirban Mandal
No abstract text is available yet for this article.
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#3
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#4
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28799099/metachromatic-leukodystrophy-mld-a-pakistani-family-with-novel-arsa-gene-mutation
#5
Muhammad Aiman Shahzad, Saba Khaliq, Ali Amar, Saqib Mahmood
A deficiency of the enzyme arylsulfatase A (ARSA) causes a progressive neurodegenerative lysosomal storage disease known as metachromatic leukodystrophy (MLD). Diagnosis is based on the onset of neurological symptoms, presence of gait abnormalities, spasticity, decreased muscle stretch reflexes and neuro-radiological evidence of demyelination. The purpose of the present study was to identify any mutation in the candidate ARSA gene in a family of late infantile MLD patients. The diagnosis of suspected MLD patients was confirmed by a MRI report and low ARSA enzymatic activity in leukocytes...
August 10, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28769756/an-lmnb1-duplication-caused-adult-onset-autosomal-dominant-leukodystrophy-in-chinese-family-clinical-manifestations-neuroradiology-and-genetic-diagnosis
#6
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM) hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28764307/infantile-alexander-disease-case-report-and-review-of-literature
#7
Soumyabrata Sarkar, Rupam Sinha, Amitabha Chakraborty, Tanya Khaitan, Biyas Bhowmik
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28718234/paediatrics-brain-imaging-in-epilepsy-common-presenting-symptoms-and-spectrum-of-abnormalities-detected-on-mri
#8
Azmat Ali, Faiza Akram, Ghayyur Khan, Shaukat Hussain
BACKGROUND: Epilepsy, a common neurological disorder can present at any age and has a number of aetiologies with underlying brain disease being the most common aetiology. Brain imaging becomes important and mandatory in the work up for epilepsy in localization and lateralization of the seizure focus. METHODS: This cross-sectional study was conducted in the department of Radiology Ayub Medical Teaching Institution Abbottabad from 1st March 2015 to 31st March 2016...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28667691/subacute-demyelinating-peripheral-neuropathy-as-a-novel-presentation-of-late-infantile-metachromatic-leukodystrophy
#9
Hernan D Gonorazky, Kimberly Amburgey, Grace Yoon, Jiri Vajsar, Elysa Widjaja, James J Dowling
Metachromatic leukodystrophy (MLD) is a progressive white matter disease caused by mutations in the ARSA gene(1) . There are 3 clinical subtypes that vary based on age of onset and severity of presentation. The most severe subtype is the late infantile form that presents in the second year of life (after a period of normal development) with progressive motor and cognitive deterioration and occasionally seizures. Affected individuals progress to death, usually by age 5 years. MLD is typically suspected in the appropriate clinical setting by characteristic T2 changes on brain MRI...
July 1, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28638987/leukodystrophies-a-proposed-classification-system-based-on-pathological-changes-and-pathogenetic-mechanisms
#10
REVIEW
Marjo S van der Knaap, Marianna Bugiani
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28628708/brain-calcifications-in-adult-onset-genetic-leukoencephalopathies-a-review
#11
REVIEW
Xavier Ayrignac, Gaël Nicolas, Clarisse Carra-Dallière, Didier Hannequin, Pierre Labauge
Importance: Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and magnetic resonance imaging (MRI)-based approaches have been proposed to improve the diagnostic process of adult-onset leukoencephalopathies...
August 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28592043/-a-report-of-atypical-hypomyelinating-leukodystrophy-with-atrophy-of-the-basal-ganglia-and-cerebellum-caused-by-a-de-novo-mutation-in-tubulin-beta-4a-tubb4a-gene-and-literature-review
#12
REVIEW
Y Du, C Li, J Guo, P Guo, Z Y Li, W Zhang
Objective: To explore the clinical symptoms and neuroimaging features of a patient with atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (H-ABC) caused by a novel TUBB4A mutation. Methods: We analyzed the clinical data, imaging features and the result of genetic testing of a case diagnosed as atypical H-ABC. Results: The initial symptoms were progressive spasticity, mild cerebellar ataxia and mild cognitive impairment. MRI showed regional blurring of slight high signal on T(2)-weight and FLAIR image in white matter of the bilateral midbrain ventral, internal capsule, posteior horn of lateral ventricle and centrum semiovale, with normal bilateral cerebellar and caudoputamen nucleus...
June 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28589167/demyelination-load-as-predictor-for-disease-progression-in-juvenile-metachromatic-leukodystrophy
#13
Manuel Strölin, Ingeborg Krägeloh-Mann, Christiane Kehrer, Marko Wilke, Samuel Groeschel
OBJECTIVE: The aim of this study was to investigate whether the extent and topography of cerebral demyelination correlates with and predicts disease progression in patients with juvenile metachromatic leukodystrophy (MLD). METHODS: A total of 137 MRIs of 46 patients with juvenile MLD were analyzed. Demyelination load and brain volume were quantified using the previously developed Software "clusterize." Clinical data were collected within the German Leukodystrophy Network and included full scale intelligence quotient (FSIQ) and gross motor function data...
June 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28580052/mri-diagnosis-of-infantile-alexander-disease-in-a-14-month-old-african-boy
#14
Nondumiso Dlamini, Vicci du Plessis
Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, in combination with positive genetic blood analysis, confirm the diagnosis.
October 2016: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/28561206/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#15
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28459997/hypomorphic-mutations-in-polr3a-are-a-frequent-cause-of-sporadic-and-recessive-spastic-ataxia
#16
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia. First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associated with hypomyelinating leukodystrophy type 7...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28438749/respiratory-difficulty-with-palatal-laryngeal-and-respiratory-muscle-tremor-in-adult-onset-alexander-s-disease
#17
John McAuley, Rowena Taylor, Anita Simonds, Sanjiv Chawda
Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander's disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD)...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28401768/primary-progressive-multiple-sclerosis-presenting-with-severe-predominant-cognitive-impairment-and-psychiatric-symptoms-a-challenging-case
#18
Alberto Andrea Zambon, Giordano Cecchetti, Francesca Caso, Roberto Santangelo, Cristina Baldoli, Maria Grazia Natali Sora, Giancarlo Comi, Giuseppe Magnani, Vittorio Martinelli
Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28393430/a-mutation-in-the-tubb4a-gene-leads-to-microtubule-accumulation-with-hypomyelination-and-demyelination
#19
Ian D Duncan, Marianna Bugiani, Abigail B Radcliff, John J Moran, Camila Lopez-Anido, Phu Duong, Benjamin K August, Nicole I Wolf, Marjo S van der Knaap, John Svaren
OBJECTIVE: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS: Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) gene, because mutations in the TUBB4A gene have been described in patients with central nervous system hypomyelination. To determine whether accumulation of microtubules led to progressive demyelination, we analyzed the spinal cord and optic nerves of 2-year-old rats by light and electron microscopy...
May 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#20
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping...
April 2017: Neurology. Genetics
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