Literature DB >> 15079028

Leukoencephalopathy, cerebral calcifications, and cysts: new observations.

L M Nagae-Poetscher1, G Bibat, M Philippart, S Rosemberg, A Fatemi, M T C Lacerda, M O R Costa, F Kok, C Costa Leite, A Horská, P B Barker, S Naidu.   

Abstract

We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.

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Year:  2004        PMID： 15079028     DOI： 10.1212/01.wnl.0000119341.59445.cf

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  15 in total

1.  Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Authors:  Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel-Salem; Riyana Babul-Hirji; Peter Baxter; Andrea Berger; Luisa Bonafé; Janice E Brunstom-Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre-Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenço; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luís Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow
Journal:  Nat Genet       Date:  2012-01-22       Impact factor: 38.330

2.  Leukoencephalopathy, cerebral calcifications, and cysts.

Authors:  U Sener; Y Zorlu; S Men; U Bayol; U Zanapalioglu
Journal:  AJNR Am J Neuroradiol       Date:  2006-01       Impact factor: 3.825

3.  Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Authors:  Anne Polvi; Tarja Linnankivi; Tero Kivelä; Riitta Herva; James P Keating; Outi Mäkitie; Davide Pareyson; Leena Vainionpää; Jenni Lahtinen; Iiris Hovatta; Helena Pihko; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

4.  Contribution of QSM Imaging to the Diagnosis of the Rare Syndrome of Leukoencephalopathy with Cysts and Calcification (LCC).

Authors:  Peter Raab; Martin Stangel; Heinrich Lanfermann
Journal:  Clin Neuroradiol       Date:  2017-05-05       Impact factor: 3.649

5.  The burden of inherited leukodystrophies in children.

Authors:  J L Bonkowsky; C Nelson; J L Kingston; F M Filloux; M B Mundorff; R Srivastava
Journal:  Neurology       Date:  2010-07-21       Impact factor: 9.910

6.  Leukoencephalopathy with intracranial calcifications and cysts in an adult: Case report and review of literature.

Authors:  K Ummer; K A Salam; Mohan L Noone; V G Pradeep Kumar; Neena Mampilly; S Sivakumar
Journal:  Ann Indian Acad Neurol       Date:  2010-10       Impact factor: 1.383

7.  Leukoencephalopathy, cerebral calcifications and cysts: a family study.

Authors:  Kinga Karlinger; Ádám Domonkos Tárnoki; Dávid László Tárnoki; Anne Polvi; Anna-Elina Lehesjoki; Andrea Kelemen; László Szegedi; Eszter Turányi; Anita Kamondi; Anna Szűcs
Journal:  J Neurol       Date:  2014-07-18       Impact factor: 4.849

8.  Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report.

Authors:  Yaming Wang; Gang Cheng; Chao Dong; Jianning Zhang; Yuhong Meng
Journal:  J Med Case Rep       Date:  2013-06-06

9.  Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: A case report and review of literature.

Authors:  John Berry-Candelario; Ekkehard Kasper; Emad Eskandar; Clark C Chen
Journal:  Surg Neurol Int       Date:  2011-11-14

10.  Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.

Authors:  D T Winkler; P Lyrer; A Probst; D Devys; T Haufschild; S Haller; N Willi; M J Mihatsch; A J Steck; M Tolnay
Journal:  J Neurol       Date:  2008-01-22       Impact factor: 6.682
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