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Sökning: onr:"swepub:oai:DiVA.org:uu-220773" > Leukoencephalopathy...

  • Livingston, John HDepartment of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom (författare)

Leukoencephalopathy with Calcifications and Cysts : A Purely Neurological Disorder Distinct from Coats Plus

  • Artikel/kapitelEngelska2014

Förlag, utgivningsår, omfång ...

  • 2014-01-09
  • Georg Thieme Verlag KG,2014
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-220773
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-220773URI
  • https://doi.org/10.1055/s-0033-1364180DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Objective With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. Patients and Methods A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described. Results The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy. Conclusion LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Mayer, JosephineDepartment of Genetic Medicine, University of Manchester, United Kingdom (författare)
  • Jenkinson, EmmaDepartment of Genetic Medicine, University of Manchester, United Kingdom (författare)
  • Kasher, PaulDepartment of Genetic Medicine, University of Manchester, United Kingdom (författare)
  • Stivaros, StavrosImaging, Genomics and Proteomics Research Group, University of Manchester, United Kingdom (författare)
  • Berger, AndreaDepartment of Pediatric Neurology, Children’s Hospital, Harlaching, Munich and University of Mainz, Germany (författare)
  • Cordelli, Duccio MChild Neuropsychiatry Unit, University of Bologna, Italy (författare)
  • Ferreira, PatrickDivision of Medical Genetics, Alberta Children’s Hospital, Calgary, Canada (författare)
  • Jefferson, RosalindDepartment of Paediatrics, Royal Berkshire Hospital, Reading, United Kingdom (författare)
  • Kutschke, GeorgDepartment of Pediatrics and Neonatology, Universitätsklinikum des Saarlandes, Homburg, Germany (författare)
  • Lundberg, Staffan,1956-Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)staflund (författare)
  • Ounap, KatrinDepartment of Genetics, Tartu University Hospital, Estonia (författare)
  • Prabhakar, PrabDepartment of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom (författare)
  • Soh, CalvinDepartment of Neuroradiology, Salford Royal NHS Foundation Trust, United Kingdom (författare)
  • Stewart, HelenDepartment of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, United Kingdom (författare)
  • Stone, JonDepartment of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom (författare)
  • van der Knaap, Marjo SDepartment of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands (författare)
  • van Esch, HildaCenter for Human Genetics, University Hospitals Leuven, Belgium (författare)
  • van Mol, ChristineCenter for Human Genetics, University Hospitals Leuven, Belgium (författare)
  • Wakeling, EmmaNorth West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, United Kingdom (författare)
  • Whitney, AndreaDepartment of Paediatric Neurology, Southampton General Hospital, United Kingdom (författare)
  • Rice, Gillian IDepartment of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom (författare)
  • Crow, Yanick JDepartment of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United Kingdom (författare)
  • Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, United KingdomDepartment of Genetic Medicine, University of Manchester, United Kingdom (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Neuropediatrics: Georg Thieme Verlag KG45:3, s. 175-1820174-304X1439-1899

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