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Multisystem atrophy

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https://www.readbyqxmd.com/read/28335035/a-novel-cisd2-mutation-associated-with-a-classical-wolfram-syndrome-phenotype-alters-ca2-homeostasis-and-er-mitochondria-interactions
#1
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu-Wai-Man, Véronique Paquis-Flucklinger
Wolfram syndrome (WS) is progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with Wolfram syndrome type 2 (WFS2). The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency...
March 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28278160/hyperleptinemia-in-children-with-autosomal-recessive-spinal-muscular-atrophy-type-i-iii
#2
Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
BACKGROUND: Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28268209/patterns-of-eye-movement-impairment-correlate-with-regional-brain-atrophy-in-neurodegenerative-parkinsonism
#3
Olga Vintonyak, Martin Gorges, Hans-Peter Müller, Elmar H Pinkhardt, Albert C Ludolph, Hans-Jürgen Huppertz, Jan Kassubek
BACKGROUND: One common feature of neurodegenerative parkinsonism including Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP) is altered eye movement control. Characteristic regional structural atrophy patterns in MRI can be observed in PD, MSA, and PSP. OBJECTIVE: To investigate the association between eye movement disturbances and regional brain atrophy in patients with PD, MSA, and PSP. METHODS: High-resolution 3-dimensional T1-weighted MRI images and video-oculographic recordings (EyeLink®) were obtained from 39 PD, 32 PSP, and 18 MSA patients and 24 matched healthy control subjects...
March 8, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#4
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28148925/a-novel-mutation-in-the-proteolytic-domain-of-lonp1-causes-atypical-codas-syndrome
#5
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilateral cataracts, spasticity, hypotonia with motor regression and progressive cerebellar atrophy with hyperintensity of the cerebellar cortex on T2-weighted images...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28078570/micro-rna-expression-in-muscle-and-fiber-morphometry-in-myotonic-dystrophy-type-1
#6
Chiara Fritegotto, Chiara Ferrati, Valentina Pegoraro, Corrado Angelini
We aimed to explore the cellular action of micro-RNAs that are non-coding-RNAs modulating gene expression, whose expression is dysregulated in myotonic dystrophy (DM1). Basic procedure was to measure the levels of muscle-specific myo-miRNAs (miR-1, miR-133a/b, miR-206) in muscle of 12 DM1 patients. Muscle fiber morphometry and a new grading of histopathological severity score were used to compare specific myo-miRNA level and fiber atrophy. We found that the levels of miR-1 and miR-133a/b were significantly decreased, while miR-206 was significantly increased as compared to controls...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28077166/threonine-175-a-novel-pathological-phosphorylation-site-on-tau-protein-linked-to-multiple-tauopathies
#7
Alexander J Moszczynski, Wencheng Yang, Robert Hammond, Lee Cyn Ang, Michael J Strong
Microtubule associated protein tau (tau) deposition is associated with a spectrum of neurodegenerative diseases collectively termed tauopathies. We have previously shown that amyotrophic lateral sclerosis (ALS) with cognitive impairment (ALSci) is associated with tau phosphorylation at Thr(175) and that this leads to activation of GSK3β which then induces phosphorylation at tau Thr(231). This latter step leads to dissociation of tau from microtubules and pathological tau fibril formation. To determine the extent to which this pathway is unique to ALS, we have investigated the expression of pThr(175) tau and pThr(231) tau across a range of frontotemporal degenerations...
January 11, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28041799/eif2b-related-multisystem-disorder-in-two-sisters-with-atypical-presentations
#8
Jin Sook Lee, Sangmoon Lee, Murim Choi, Byung Chan Lim, Jieun Choi, Ki Joong Kim, Jung-Eun Cheon, In-One Kim, Jong-Hee Chae
BACKGROUND: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. CASE PRESENTATION: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age...
July 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27995438/urate-as-a-marker-of-risk-and-progression-of-neurodegenerative-disease
#9
REVIEW
Sabrina Paganoni, Michael A Schwarzschild
Urate is a naturally occurring antioxidant whose levels are associated with reduced risk of developing Parkinson's disease (PD) and Alzheimer's disease. Urate levels are also associated with favorable progression in PD, amyotrophic lateral sclerosis, Huntington's disease, and multisystem atrophy. These epidemiological data are consistent with laboratory studies showing that urate exhibits neuroprotective effects by virtue of its antioxidant properties in several preclinical models. This body of evidence supports the hypothesis that urate may represent a shared pathophysiologic mechanism across neurodegenerative diseases...
January 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27927236/chronic-infantile-neurological-cutaneous-and-articular-cinca-syndrome-a-review
#10
REVIEW
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
INTRODUCTION: The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#11
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27878435/novel-phenotypes-and-loci-identified-through-clinical-genomics-approaches-to-pediatric-cataract
#12
Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27844341/does-the-type-of-multisystem-atrophy-parkinsonism-or-cerebellar-ataxia-impact-on-the-nature-of-sleep-disorders
#13
REVIEW
Luigi Ferini-Strambi, Sara Marelli, Romina Combi
Multiple system atrophy (MSA) is a neurodegenerative disease characterized by a combination of autonomic failure, parkinsonism, and/or cerebellar ataxia. The cause of MSA is unknown, but neuropathologically the disease is characterized by widespread α-synuclein-positive glial cytoplasmic inclusions and striatonigral and/or olivopontocerebellar neurodegeneration. Two motor phenotypes have been clinically identified: parkinsonian (MSA-P) and cerebellar (MSA-C). In order to elucidate if in addition to the motor abnormalities there are other significant differences between these two phenotypes, we performed a review of the studies on sleep disorders in the two MSA subtypes...
December 2016: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/27837184/mri-findings-and-cognitive-functions-in-a-small-cohort-of-myotonic-dystrophy-type-1-retrospective-analyses
#14
Arsida Bajrami, Filiz Azman, Vildan Yayla, Sultan Cagirici, Cahit Keskinkiliç, Nejla Sozer
Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease with common cognitive deficits and potential brain involvement in addition to the cardinal muscular and systemic symptoms. Impaired mental function associated with nonspecific pathological findings such as white-matter hyperintense lesions (WMHLs), ventricular enlargement and brain atrophy on brain MRI have been previously reported in DM1 patients. While some studies showed correlation of brain morphological changes with neuropsychological and clinical parameters including CTG repeat sizes and disease severity scales in DM1, others failed...
February 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#15
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27816346/-neuro-langerhans-cell-histiocytosis
#16
REVIEW
Loïc Le Guennec, Nadine Martin-Duverneuil, Karima Mokhtari, Maria Santiago-Ribeiro, Eléonore Bayen, Antoine Del Cul, Daniel Delgadillo, Aurélie Kas, Carine Courtillot, Julien Haroche, Fleur Cohen, Jean Donadieu, Khê Hoang-Xuan, Ahmed Idbaih
Langerhans cell histiocytosis (LCH) is a rare multisystemic disease. LCH is characterized by proliferation of myeloid progenitors with altered differentiation program and similar phenotypic features to epidermal dendritic cells termed Langerhans cell. LCH cells express CD1a+ and langerin and exhibit BRAF V600E mutation in ∼50% of cases. Neurological involvement or neuro-LCH is observed in 5 to 10% of cases. Three subtypes of neuro-LCH are individualized. The tumor type, accounting for 45% of neuro-LCH, affect mainly young adults...
January 2017: La Presse Médicale
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#17
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27726134/survival-of-motor-neurone-protein-is-required-for-normal-postnatal-development-of-the-spleen
#18
Alison K Thomson, Eilidh Somers, Rachael A Powis, Hannah K Shorrock, Kelley Murphy, Kathryn J Swoboda, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of SMA (Type I SMA) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the 'Taiwanese' murine model of severe SMA (Smn(-/-) ;SMN2(tg/0) ), correlated to low levels of cell proliferation and increased cell death...
October 11, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/27607166/a-unique-case-of-erdheim-chester-disease-with-cervical-and-lumbosacral-nerve-involvement-fdg-pet-ct-finding
#19
Na Niu, Xinxin Cao, Ruixue Cui
Cervical and lumbosacral nerve roots and plexus involvement in Erdheim-Chester disease (ECD) is rare. A 50-year-old man with progressive edema in bilateral lower extremities, numbness, weakness, and muscle atrophy of upper limb for 2 years had been misdiagnosed of neuritis or cervical spondylosis until he presented bone pain. In addition to bilateral symmetric involvement in long bones, bilateral hypermetabolism in cervical and lumbosacral nerve roots was found by FDG PET/CT scan. ECD was diagnosed by bone biopsy...
November 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27591058/diagnostic-value-of-blink-reflex-in-multisystem-atrophy-progressive-supranuclear-palsy-and-parkinson-disease
#20
Elzbieta Szmidt-Salkowska, Malgorzata Gawel, Zygmunt Jamrozik, Joanna Salkowska-Wanat, Damian Gawel, Anna Kaminska
UNLABELLED: Abnormal blink reflex (BR) is a result of reticular brainstem pathways dysfunction and seems to be one of the features of brain degenerative disorders. The aim of the study was to estimate the diagnostic value of blink reflex in neurodegenerative diseases such as: multisystem atrophy (MSA), progressive supranuclear palsy (PSP) and Parkinson disease (PD). Material consisted of 99 patients with clinically probable MSA (51), PSP (28) and PD (20). MSA patients were divided into two subgroups, with dominant cerebellar (MSA-C) and parkinsonian signs (MSA-P)...
2016: Neurologia i Neurochirurgia Polska
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