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leukodystrophy

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https://www.readbyqxmd.com/read/28531236/psychosine-enhances-the-shedding-of-membrane-microvesicles-implications-in-demyelination-in-krabbe-s-disease
#1
Ludovic D'Auria, Cory Reiter, Emma Ward, Ana Lis Moyano, Michael S Marshall, Duc Nguyen, Giuseppe Scesa, Zane Hauck, Richard van Breemen, Maria I Givogri, Ernesto R Bongarzone
In prior studies, our laboratory showed that psychosine accumulates and disrupts lipid rafts in brain membranes of Krabbe's disease. A model of lipid raft disruption helped explaining psychosine's effects on several signaling pathways important for oligodendrocyte survival and differentiation but provided more limited insight in how this sphingolipid caused demyelination. Here, we have studied how this cationic inverted coned lipid affects the fluidity, stability and structure of myelin and plasma membranes...
2017: PloS One
https://www.readbyqxmd.com/read/28526683/autoreactivity-to-sulfatide-by-human-invariant-nkt-cells
#2
Annelein M Stax, Jessica Tuengel, Enrico Girardi, Naoki Kitano, Lenka L Allan, Victor Liu, Dongjun Zheng, William J Panenka, Joren Guillaume, Chi-Huey Wong, Serge van Calenbergh, Dirk M Zajonc, Peter van den Elzen
Invariant NKT (iNKT) cells are innate-like lymphocytes that recognize lipid Ags presented by CD1d. The prototypical Ag, α-galactosylceramide, strongly activates human and mouse iNKT cells, leading to the assumption that iNKT cell physiology in human and mouse is similar. In this article, we report the surprising finding that human, but not mouse, iNKT cells directly recognize myelin-derived sulfatide presented by CD1d. We propose that sulfatide is recognized only by human iNKT cells because of the unique positioning of the 3-O-sulfated β-galactose headgroup...
May 19, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#3
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28515562/leukodystrophy-presenting-as-hyperactivity-and-bipolarity-with-uncommon-adverse-drug-reaction
#4
Roshan Sutar, Anirban Ray, Shekhar P Sheshadri
Leukodystrophy is a group of demyelinating neurodegenerative diseases of brain with varied presentation and multiple etiologies. Prognosis is predominantly dismal. Misdiagnosis and wrong treatment are common in this group of rare neurological disorders, especially when it presents with psychiatric symptoms. In this case, importance of neurological and radiological evaluation and need for high diagnostic suspicion in treatment-resistant psychiatric disorders is highlighted.
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28493104/hypomyelinating-leukodystrophy-associated-with-a-deleterious-mutation-in-the-atrn-gene
#5
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide...
May 10, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28489149/frontal-lobes-white-matter-abnormalities-mimicking-cystic-leukodystrophy-in-wilson-s-disease
#6
Flavio Moura Rezende, Eva Rocha, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini
No abstract text is available yet for this article.
April 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28470589/novel-nfu1-variants-induced-mmds-behaved-as-special-leukodystrophy-in-chinese-sufferers
#7
Danqun Jin, Tian Yu, Le Zhang, Tao Wang, Jun Hu, Yajian Wang, Xiu-An Yang
Multiple mitochondrial dysfunctions syndrome (MMDS) is an autosomal recessive disorder of systemic energy metabolism. This study is to present the diagnosis of two MMDS Chinese sufferers. Physical and auxiliary examination was performed. Next generation sequencing (NGS) was conducted to identify candidate causal genes and Sanger sequencing was adopted to validate the variants detected. Fluorescence quantitative polymerase chain reaction (FQ-PCR) amplification was carried out to testify allelic loss existence...
May 3, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28459997/hypomorphic-mutations-in-polr3a-are-a-frequent-cause-of-sporadic-and-recessive-spastic-ataxia
#8
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...
April 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#9
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28438749/respiratory-difficulty-with-palatal-laryngeal-and-respiratory-muscle-tremor-in-adult-onset-alexander-s-disease
#10
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/28409470/flow-cytometric-analysis-of-the-expression-pattern-of-peroxisomal-proteins-abcd1-abcd2-and-abcd3-in-bv-2-murine-microglial-cells
#11
Meryam Debbabi, Thomas Nury, Imen Helali, El Mostafa Karym, Flore Geillon, Catherine Gondcaille, Doriane Trompier, Amina Najid, Sébastien Terreau, Maryem Bezine, Amira Zarrouk, Anne Vejux, Pierre Andreoletti, Mustapha Cherkaoui-Malki, Stéphane Savary, Gérard Lizard
Microglial cells play important roles in neurodegenerative diseases including peroxisomal leukodystrophies. The BV-2 murine immortalized cells are widely used in the context of neurodegenerative researches. It is therefore important to establish the expression pattern of peroxisomal proteins by flow cytometry in these cells. So, the expression pattern of various peroxisomal transporters (Abcd1, Abcd2, Abcd3) contributing to peroxisomal β-oxidation was evaluated on BV-2 cells by flow cytometry and complementary methods (fluorescence microscopy, and RT-qPCR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28407788/absence-of-neurological-abnormalities-in-mice-homozygous-for-the-polr3a-g672e-hypomyelinating-leukodystrophy-mutation
#12
Karine Choquet, Sharon Yang, Robyn D Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M Willis, Claudia L Kleinman, Bernard Brais
Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of transfer RNAs (tRNAs) and a large array of other small non-coding RNAs. In order to study the central nervous system pathophysiology of the disease, we introduced the French Canadian founder Polr3a mutation c.2015G > A (p.G672E) in mice, generating homozygous knock-in (KI/KI) as well as compound heterozygous mice for one Polr3a KI and one null allele (KI/KO)...
April 13, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28401768/primary-progressive-multiple-sclerosis-presenting-with-severe-predominant-cognitive-impairment-and-psychiatric-symptoms-a-challenging-case
#13
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/28398517/depolarization-causes-the-formation-of-a-ternary-complex-between-glialcam-mlc1-and-clc-2-in-astrocytes-implications-in-megalencephalic-leukoencephalopathy
#14
Sònia Sirisi, Xabier Elorza-Vidal, Tanit Arnedo, Mercedes Armand-Ugón, Gerard Callejo, Xavier Capdevila-Nortes, Tania López-Hernández, Uwe Schulte, Alejandro Barrallo-Gimeno, Virginia Nunes, Xavier Gasull, Raúl Estévez
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM. GlialCAM is necessary for the correct targeting of MLC1, but also for the targeting of the Cl- channel ClC-2. Furthermore, GlialCAM modifies ClC-2 functional properties in vitro. However, in vivo studies in GlialCAM-/- mice have shown that the modification of ClC-2 activity only occurs in oligodendrocytes, despite GlialCAM and ClC-2 being expressed in astrocytes. Thus, the relationship between GlialCAM, MLC1 and ClC-2 in astrocytes is unknown...
April 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28393430/a-mutation-in-the-tubb4a-gene-leads-to-microtubule-accumulation-with-hypomyelination-and-demyelination
#15
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...
April 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28377887/defective-myelination-in-mice-harboring-hypomyelinating-leukodystrophy-associated-hspd1-mutation
#16
Yuki Miyamoto, Kazuko Kawahara, Tomohiro Torii, Junji Yamauchi
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#17
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
https://www.readbyqxmd.com/read/28342553/myelin-changes-in-alexander-disease
#18
U Gómez-Pinedo, M Duran-Moreno, S Sirerol-Piquer, J Matias-Guiu
INTRODUCTION: Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood. DEVELOPMENT: The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP...
March 22, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#19
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#20
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
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